F Muntoni

Summary

Affiliation: Imperial College
Country: UK

Publications

  1. ncbi request reprint The congenital muscular dystrophies in 2004: a century of exciting progress
    Francesco Muntoni
    Department of Paediatrics and Neonatal, Dubowitz Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 14:635-49. 2004
  2. pmc Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42
    M Brockington
    Neuromuscular Unit, Division of Paediatrics, Obstetrics, and Gynaecology, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 ONN, United Kingdom
    Am J Hum Genet 66:428-35. 2000
  3. ncbi request reprint Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
    M Brockington
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London, UK
    Hum Mol Genet 10:2851-9. 2001
  4. ncbi request reprint Minicore myopathy in children: a clinical and histopathological study of 19 cases
    H Jungbluth
    Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, W12 0NN, London, UK
    Neuromuscul Disord 10:264-73. 2000
  5. ncbi request reprint Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy
    C A Sewry
    Department of Paediatrics and Neonatal Medicine, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, London W12 ONN, UK
    Lancet 347:582-4. 1996
  6. ncbi request reprint Immunopathology and molecular genetics of dystrophinopathies
    S C Brown
    Neuromuscular Unit, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Suppl Clin Neurophysiol 57:313-21. 2004
  7. ncbi request reprint Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia
    M Kinali
    Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College School of Medicine, London, UK
    Neuromuscul Disord 14:689-93. 2004
  8. ncbi request reprint 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)
    F Muntoni
    Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, W12 ONN, London, UK
    Neuromuscul Disord 13:579-88. 2003
  9. ncbi request reprint Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells
    N F Dolatshad
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College, Du Cane Road, London W12 ONN, UK
    Exp Cell Res 309:370-8. 2005
  10. ncbi request reprint A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus
    L Hartley
    Dubowitz Neuromuscular Centre, Department of Pediatrics, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 17:174-9. 2007

Detail Information

Publications103 found, 100 shown here

  1. ncbi request reprint The congenital muscular dystrophies in 2004: a century of exciting progress
    Francesco Muntoni
    Department of Paediatrics and Neonatal, Dubowitz Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 14:635-49. 2004
    ..In this review we present how the congenital muscular dystrophies field has evolved over the last decade from a clinical and genetic point of view...
  2. pmc Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42
    M Brockington
    Neuromuscular Unit, Division of Paediatrics, Obstetrics, and Gynaecology, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 ONN, United Kingdom
    Am J Hum Genet 66:428-35. 2000
    ..The secondary reduction in laminin-alpha2 chain in these families suggests that the primary genetic defect resides in a gene coding for a protein involved in basal lamina assembly...
  3. ncbi request reprint Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
    M Brockington
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London, UK
    Hum Mol Genet 10:2851-9. 2001
    ..The spectrum of LGMD2I phenotypes ranged from infants with an early presentation and a Duchenne-like disease course including cardiomyopathy, to milder phenotypes compatible with a favourable long-term outcome...
  4. ncbi request reprint Minicore myopathy in children: a clinical and histopathological study of 19 cases
    H Jungbluth
    Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, W12 0NN, London, UK
    Neuromuscul Disord 10:264-73. 2000
    ..With the exception of one family in which two generations were affected, inheritance appeared autosomal-recessive or sporadic in all cases...
  5. ncbi request reprint Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy
    C A Sewry
    Department of Paediatrics and Neonatal Medicine, MRC Clinical Sciences Centre, Royal Postgraduate Medical School, London W12 ONN, UK
    Lancet 347:582-4. 1996
    ..Here we have investigated laminin alpha2 deficiency in skin biopsy specimens from two patients with congenital muscular dystrophy...
  6. ncbi request reprint Immunopathology and molecular genetics of dystrophinopathies
    S C Brown
    Neuromuscular Unit, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Suppl Clin Neurophysiol 57:313-21. 2004
  7. ncbi request reprint Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia
    M Kinali
    Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College School of Medicine, London, UK
    Neuromuscul Disord 14:689-93. 2004
    ..We conclude that mutations in the potassium channel gene (KCNA1) can cause severe neuromyotonia resulting in marked skeletal deformities even if episodic ataxia is not prominent...
  8. ncbi request reprint 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)
    F Muntoni
    Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, W12 ONN, London, UK
    Neuromuscul Disord 13:579-88. 2003
  9. ncbi request reprint Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells
    N F Dolatshad
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College, Du Cane Road, London W12 ONN, UK
    Exp Cell Res 309:370-8. 2005
    ....
  10. ncbi request reprint A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus
    L Hartley
    Dubowitz Neuromuscular Centre, Department of Pediatrics, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 17:174-9. 2007
    ..These seven infants are affected by a myopathic condition clinically resembling SMARD1. However, its pathogenesis appears to be a myopathy affecting predominantly the diaphragm...
  11. ncbi request reprint Diaphragmatic spinal muscular atrophy with bulbar weakness
    E Mercuri
    Department of Paediatrics and Neonatal Medicine and Dubowitz Neuromuscular Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Eur J Paediatr Neurol 4:69-72. 2000
    ..Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy...
  12. ncbi request reprint Congenital muscular dystrophy: molecular and cellular aspects
    C Jimenez-Mallebrera
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, United Kingdom
    Cell Mol Life Sci 62:809-23. 2005
    ..In this review we present the major molecular, clinical and diagnostic aspects of each group of congenital muscular dystrophy with an emphasis in the more recent developments...
  13. ncbi request reprint Non-sarcolemmal muscular dystrophies
    S C Brown
    Dubowitz Neuromuscular Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Brain Pathol 11:193-205. 2001
    ..This review outlines the genetic basis of these "non-sarcolemmal" forms of dystrophy and discusses current ideas on their pathogenesis...
  14. ncbi request reprint Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study
    M Kinali
    Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammersmith Hospital Campus, Imperial College London, UK
    Dev Med Child Neurol 48:513-8. 2006
    ..We provide insight into the natural history of scoliosis in DMD that should help families and clinicians with decision-making when surgery is considered...
  15. ncbi request reprint Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy
    M Kinali
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, Imperial College, Du Cane Road, London, W12 0HN, UK
    Eur J Paediatr Neurol 8:217-9. 2004
    ..This case report emphasizes that a borderline concentration of free carnitine does not exclude the diagnosis of primary carnitine deficiency. Concurrent measurement of carnitine in the plasma and urine is a more sensitive test...
  16. ncbi request reprint The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies
    M Brockington
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital Campus, Imperial College, London, UK
    Acta Myol 24:217-21. 2005
    ..LARGE and/or LARGE-L up regulation could therefore represent a therapeutic option for patients affected by dystroglycanopathies, regardless of their primary defect...
  17. ncbi request reprint Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA
    L A Skordis
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Hum Genet 108:356-7. 2001
    ..Sequencing of the non-deleted SMN1 gene revealed a single G insertion at the end of exon 1 in the two cousins and a novel G275S exon 6 missense mutation in the milder case...
  18. ncbi request reprint Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?
    J Philpot
    Neuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, W12 0NN, London, UK
    Neuromuscul Disord 11:489-93. 2001
    ..Understanding more about which muscles are affected in children with congenital myopathies may provide information on the underlying pathological process and help in the search for candidate proteins and genes...
  19. ncbi request reprint Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene
    H Jungbluth
    Department of Paediatrics and Neonatal Medicine, Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, W12 0NN, London, UK
    Neuromuscul Disord 11:35-40. 2001
    ..In addition, it shows the diversity of pathological features that can occur in congenital myopathies due to mutations in the same gene...
  20. ncbi request reprint Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 ONN, UK
    Neuromuscul Disord 14:125-9. 2004
    ..The identical clinical and imaging features of the sporadic and familial cases suggest that these cases are likely to be affected by the same condition...
  21. ncbi request reprint A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission
    A Majumdar
    Department of Paediatrics, Dubowitz Neuromuscular Unit, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 14:818-21. 2004
    ..Muscle biopsy showed denervation. He only received supportive treatment and by 6 months he had fully recovered, and all electrophysiological parameters had normalised...
  22. ncbi request reprint 133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands
    F Muntoni
    Department of Paediatrics, Dubowitz Neuromuscular Centre, Imperial College London, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 15:794-801. 2005
  23. ncbi request reprint Remission of clinical signs in early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy
    V Dubowitz
    Dubowitz Neuromuscular Centre, Department of Paediatrics, London, UK
    Eur J Paediatr Neurol 6:153-9. 2002
    ....
  24. ncbi request reprint Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, London, UK
    Neuropediatrics 31:186-9. 2000
    ..Linkage analysis excluded all the known loci for CMD. We propose that this may represent a novel variant of CMD...
  25. ncbi request reprint Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins
    F Muntoni
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
    Brain 129:1260-8. 2006
    ..Furthermore, digenic inheritance may well contribute to the clinical severity of many other neuromuscular disorders...
  26. ncbi request reprint 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands
    F Muntoni
    Department of Paediatrics, Hammersmith Hospital, London, UK
    Neuromuscul Disord 12:889-96. 2002
  27. pmc A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy
    A Ferlini
    Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, London W12 ONN, United Kingdom
    Am J Hum Genet 63:436-46. 1998
    ..Our report underlines the complexity of the pathogenic mechanism leading to X-linked dilated cardiomyopathy but suggests that differences in tissue-specific expression of dystrophin mutations may be a common feature in this condition...
  28. ncbi request reprint Congenital muscular dystrophy with short stature, proximal contractures and distal laxity
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, London, UK
    Neuropediatrics 35:224-9. 2004
    ..These findings extend the phenotypes within the CMD classification...
  29. ncbi request reprint Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy
    C A Sewry
    Department of Histopathology, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, SY10 7AG, Oswestry, UK
    Neuromuscul Disord 11:146-53. 2001
    ..In addition, they may also be relevant to studies of fibre type plasticity and diversity in nemaline myopathy...
  30. ncbi request reprint Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
    C A Sewry
    Department of Histopathology, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Trust, Oswestry, UK
    Neuropathol Appl Neurobiol 27:281-90. 2001
    ..Immunodetection of reduced laminin beta1 may be a useful secondary marker in adults with this disorder, as immunocytochemistry of lamins is not yet of diagnostic use...
  31. ncbi request reprint Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy
    E Mercuri
    Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, London, UK
    Neuropediatrics 33:10-4. 2002
    ....
  32. ncbi request reprint Gene table: congenital muscular dystrophies
    F Muntoni
    Department of Paediatric Neurology, Imperial College Faculty of Medicine, Hammersmith Hospital, London, UK
    Eur J Paediatr Neurol 6:79. 2002
  33. ncbi request reprint Magnetic resonance imaging assessment of infantile myofibromatosis
    S J Counsell
    Robert Steiner MR Unit, MRC Clinical Sciences Centre, Imperial College, Hammersmith Hospital, London, UK
    Clin Radiol 57:67-70. 2002
  34. ncbi request reprint Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital Faculty of Medicine, Imperial College, London
    Neurology 58:1354-9. 2002
    ..Linkage analysis to the three collagen VI genes was performed in all informative families (n = 7), whereas immunohistochemical analysis of collagen VI expression in muscle was performed in the remaining cases...
  35. pmc Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A
    E Mercuri
    Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0HN, UK
    Arch Dis Child 81:442-3. 1999
    ....
  36. ncbi request reprint Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
    H Jungbluth
    Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London, UK
    Neurology 59:284-7. 2002
    ..Molecular genetic studies in one family identified a V4849I homozygous missense mutation in the RYR1 gene. This report suggests a congenital myopathy associated with recessive RYR1 mutations...
  37. ncbi request reprint Occipito-temporal polymicrogyria and subclinical muscular dystrophy
    Z Zolkipli
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital Campus, London, UK
    Neuropediatrics 34:92-5. 2003
    ..Our findings suggest that serum CK should be determined in children with undiagnosed polymicrogyria, even in the absence of weakness. This may lead to an expansion of our understanding of muscle dystrophies and cortical dysplasias...
  38. ncbi request reprint Inherited disorders of the extracellular matrix
    C A Sewry
    Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Curr Opin Neurol 12:519-26. 1999
    ..Animal models are helping to elucidate the function of some of these proteins, to develop therapeutic strategies and to suggest candidate proteins for other neuromuscular disorders...
  39. pmc Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
    M Brockington
    The Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital Campus, London, United Kindom
    Am J Hum Genet 69:1198-209. 2001
    ..We suggest these abnormalities of alpha-dystroglycan are caused by its defective glycosylation and are integral to the pathology seen in MDC1C...
  40. ncbi request reprint Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation
    H Jungbluth
    Department of Paediatrics, Dubowitz Neuromuscular Centre, Imperial College Faculty of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Neuromuscul Disord 13:55-9. 2003
    ..This case emphasizes that investigation of the MTM1 gene and X-inactivation studies are indicated in isolated females with histopathological and clinical findings suggestive of myotubular myopathy...
  41. pmc Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy
    N Cohen
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, UK
    Heart 90:835-41. 2004
    ..This review focuses on the major mechanisms that have been proposed to explain this disorder...
  42. ncbi request reprint Congenital muscular dystrophies (CMD)
    F Muntoni
    Dubowitz Neuromuscular Centre, Department of Paediatrics and Neonatal Medicine, Imperial College London, Hammersmith Campus, Du Cane Road, London W12 0NN, UK
    Eur J Paediatr Neurol 7:229. 2003
  43. ncbi request reprint 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands
    Heinz Jungbluth
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Neuromuscul Disord 14:754-66. 2004
  44. doi request reprint Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant
    Emma M Clement
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College London, Du Cane Road, London W12 ONN, England
    Arch Neurol 65:137-41. 2008
    ..Mutations in protein-O-mannose-beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) have been found in muscle-eye-brain disease, a congenital muscular dystrophy with structural eye and brain defects and severe mental retardation...
  45. ncbi request reprint Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I
    Maja Poppe
    Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
    Ann Neurol 56:738-41. 2004
    ..These complications are a primary part of this specific type of limb-girdle muscular dystrophy, with important implications for management...
  46. ncbi request reprint Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
    Heinz Jungbluth
    Department of Paediatric Neurology, Guy s Hospital, London, UK
    Neuromuscul Disord 14:785-90. 2004
    ..Muscle MRI may supplement clinical assessment and aid selection of genetic tests particularly in patients with non-diagnostic or equivocal histopathological features...
  47. doi request reprint Differential diagnosis of congenital muscular dystrophies
    Andrea Klein
    Department of Neurology, University Children s Hospital Zurich, Switzerland
    Eur J Paediatr Neurol 12:371-7. 2008
    ..This paper aims to highlight these conditions as the common differentials or more difficult to diagnoses to consider in patients presenting as CMD...
  48. ncbi request reprint Prednisolone-induced changes in dystrophic skeletal muscle
    Ivan Fisher
    Muscle Cell Biology Group, MRC Clinical Sciences Centre, Imperial College, London, UK
    FASEB J 19:834-6. 2005
    ..These results show that glucocorticoids confer their benefit to dystrophic muscle in a complex fashion, culminating in a switch to a more normal muscle fiber type...
  49. ncbi request reprint Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures
    Eugenio Mercuri
    Department of Paediatrics and Neonatal Medicine, Dubowitz Neuromuscular Centre, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Neuromuscul Disord 15:164-71. 2005
    ....
  50. ncbi request reprint Magnetic resonance imaging of muscle in nemaline myopathy
    Heinz Jungbluth
    Department of Paediatric Neurology, Guy s Hospital, London, UK
    Neuromuscul Disord 14:779-84. 2004
    ....
  51. ncbi request reprint Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
    Heinz Jungbluth
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Neuromuscul Disord 17:338-45. 2007
    ....
  52. ncbi request reprint Journey into muscular dystrophies caused by abnormal glycosylation
    Francesco Muntoni
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College of Medicine, Hammersmith Hospital, London, UK
    Acta Myol 23:79-84. 2004
    ..This article provides an overview of the clinical, biochemical and genetic features of this group of disorders...
  53. ncbi request reprint A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy
    Laura Lucarini
    Department of Medical and Surgical Critical Care and Center of Research, Transfer and High Education, MCIDNENT, University of Florence, Viale Morgagni 85, 50134 Florence, Italy
    Hum Genet 117:460-6. 2005
    ..Our results underscore the importance of multifaceted analyses in the accurate molecular diagnosis and interpretation of genotype-phenotype correlations of UCMD...
  54. ncbi request reprint Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy
    Richard J Piercy
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College, London, United Kingdom
    Neuromuscul Disord 17:297-305. 2007
    ..These results fail to provide any evidence that dominant mutations in lamin A/C lead to a disorganisation of the desmin associated cytoskeleton...
  55. ncbi request reprint Mural cells paint a new picture of muscle stem cells
    Jennifer Morgan
    Nat Cell Biol 9:249-51. 2007
  56. ncbi request reprint Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
    Caroline Godfrey
    DNA Laboratory, Genetics Centre, Guy s Hospital, London, United Kingdom
    Ann Neurol 60:603-10. 2006
    ..The aim of this study was to determine the genetic defect in two white families with a dystroglycanopathy...
  57. ncbi request reprint Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
    Marcella Neri
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Neuromuscul Disord 17:913-8. 2007
    ..This information will be of help for the development of therapeutic approaches aimed at restoring dystrophin levels sufficient to prevent the muscle pathology in DMD...
  58. ncbi request reprint Cardiac involvement in muscular dystrophies: molecular mechanisms
    Fiona C Goodwin
    Dubowitz Neuromuscular Centre, Imperial College London, Hammersmith Hospital Campus, UK
    Muscle Nerve 32:577-88. 2005
    ..Differences between the organization of skeletal and cardiac muscle protein complex are also only starting to emerge and will very likely be the focus of future research...
  59. ncbi request reprint Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
    Caroline Godfrey
    Dubowitz Neuromuscular Unit, Hammersmith Hospital, Imperial College, London, UK
    Brain 130:2725-35. 2007
    ..Mutations in these five glycosyltransferase genes were detected in 34% of patients indicating that, after the exclusion of FKRP, the majority of patients with a dystroglycanopathy harbour mutations in novel genes...
  60. ncbi request reprint The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
    Jeroen van Reeuwijk
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 27:453-9. 2006
    ..Our data suggest the existence of a disease spectrum of CMD including brain and eye abnormalities resulting from POMT1 mutations...
  61. ncbi request reprint Genetic treatments in muscular dystrophies
    Francesco Muntoni
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital Campus, Imperial College London, London, UK
    Curr Opin Neurol 20:590-4. 2007
    ..This review focuses on three areas in which experimental clinical studies are in progress...
  62. ncbi request reprint Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK
    Francesco Muntoni
    The Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College, W12 ONN London, UK
    Neuromuscul Disord 16:210-9. 2006
  63. ncbi request reprint Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital Campus, London, United Kingdom
    Arch Neurol 63:251-7. 2006
    ..To report the spectrum of brain magnetic resonance imaging findings in 13 patients with congenital muscular dystrophy and FKRP gene mutations and to explore possible genotype-phenotype correlations...
  64. ncbi request reprint Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
    Silvia Torelli
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College London, Hammersmith Campus, UK
    Neuromuscul Disord 15:836-43. 2005
    ..These observations imply a specific role for FKRP during striated muscle, neuronal and glial development and suggest that protein mis-localisation is not a common mechanism of disease in FKRP-related dystrophies...
  65. ncbi request reprint Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Curr Opin Neurol 18:526-37. 2005
    ..This review reports on the use of muscle magnetic resonance imaging as a clinical and research tool in inherited neuromuscular disorders...
  66. ncbi request reprint Syncoilin upregulation in muscle of patients with neuromuscular disease
    Susan C Brown
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK
    Muscle Nerve 32:715-25. 2005
    ..These observations raise the possibility that mutations in the gene encoding for syncoilin may underlie some forms of muscle disease...
  67. ncbi request reprint Muscle MRI in inherited neuromuscular disorders: past, present, and future
    Eugenio Mercuri
    Department of Child Neurology and Psychiatry, Catholic University, Rome, Italy
    J Magn Reson Imaging 25:433-40. 2007
    ..Possible future applications of muscle MRI are also discussed...
  68. ncbi request reprint 128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands
    Francesco Muntoni
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, England
    Neuromuscul Disord 15:450-7. 2005
  69. ncbi request reprint Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin
    Carina Wallgren-Pettersson
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Neuromuscul Disord 14:461-70. 2004
    ..Finding the causative mutation(s) determines the mode of inheritance and permits prenatal diagnosis if requested, but will not as such permit prognostication...
  70. ncbi request reprint Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor
    Francesco Zorzato
    Department für Anaesthesie, Kantonsspital Basel, 4031 Basel, Switzerland
    Hum Mol Genet 12:379-88. 2003
    ..We provide evidence that a deletion in the lumenal loop of RYR1 alters channel function and causes CCD...
  71. ncbi request reprint Functional requirements for fukutin-related protein in the Golgi apparatus
    Chris T Esapa
    Department of Pharmacology, University of Oxford, Oxford, UK
    Hum Mol Genet 11:3319-31. 2002
    ..Aberrant processing of dystroglycan caused by a mislocalized FKRP mutant could be a novel mechanism that causes congenital muscular dystrophy...
  72. ncbi request reprint Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands
    Guglielmina Pepe
    Department of Internal Medicine, University of Rome Tor Vergata, Via Tor Vergata, 135 Torre E sud, 2 degrees piano, stanza E202, 00133, Rome, Italy
    Neuromuscul Disord 12:984-93. 2002
  73. ncbi request reprint Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle
    Kim E Wells
    Department of Neuromuscular Diseases, Imperial College Faculty of Medicine, Charing Cross Hospital, St Dunstan s Road, W6 8RP, London, UK
    Neuromuscul Disord 13:21-31. 2003
    ....
  74. ncbi request reprint Defective glycosylation in muscular dystrophy
    Francesco Muntoni
    The Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, W12 0NN, London, UK
    Lancet 360:1419-21. 2002
    ..Disrupted glycosylation of alpha-dystroglycan results in a loss of these interactions, giving rise to both progressive muscle degeneration and abnormal neuronal migration in the brain...
  75. ncbi request reprint Muscle MRI findings in a three-generation family affected by Bethlem myopathy
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Eur J Paediatr Neurol 6:309-14. 2002
    ..Further studies in a larger cohort are needed to evaluate the specificity of these findings...
  76. ncbi request reprint Nebulin mutations in autosomal recessive nemaline myopathy: an update
    Katarina Pelin
    Department of Medical Genetics, University of Helsinki and the Folkhälsan Institute of Genetics, P O Box 211, FIN 00251, Helsinki, Finland
    Neuromuscul Disord 12:680-6. 2002
    ..Most of the mutations are predicted to result in truncated or internally deleted proteins. Mutations in the differentially expressed exons are expected to reduce the nebulin isoform diversity necessary for normal muscle development...
  77. ncbi request reprint Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
    Eugenio Mercuri
    Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College, Du Cane Road, W12 OHN, London, UK
    Neuromuscul Disord 12:631-8. 2002
    ....
  78. ncbi request reprint An effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne dystrophy
    Maria Kinali
    Department of Paediatrics, Dubowitz Neuromuscular Centre, ICSM Hammersmith Campus, London W12 ONN, UK
    Neuromuscul Disord 12:S169-74. 2002
    ..The striking response also suggests that there may be an optimal window for treatment of Duchenne dystrophy in the early stages of the disease...
  79. ncbi request reprint Steroids in Duchenne muscular dystrophy: from clinical trials to genomic research
    Francesco Muntoni
    The Dubowitz Neuromuscular Centre, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 12:S162-5. 2002
    ....
  80. pmc Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies
    Ana Ferreiro
    INSERM U523, Institut de Myologie, Institut Fédératif de Recherche 14 Coeur, Muscle et Vaisseaux, Paris, France
    Am J Hum Genet 71:739-49. 2002
    ..The present study represents the first identification of a gene responsible for classical MmD, demonstrates its genetic heterogeneity, and reassesses the nosological boundaries between MmD and RSMD...
  81. ncbi request reprint The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss
    Marc J Greener
    Division of Medical and Molecular Genetics, GKT Medical School, Guy s Hospital, London, UK
    Eur J Hum Genet 10:413-20. 2002
    ..We consider the possibility that the 3'UTR may represent a significant target for pathogenic mutations...
  82. ncbi request reprint Muscle development genes: their relevance in neuromuscular disorders
    Francesco Muntoni
    Neuromuscular Unit, Department of Paediatrics and Neonatal Medicine, Imperial College Faculty of Medicine, Hammersmith Hospital, Du Cane Road, London, UK
    Neuromuscul Disord 12:438-46. 2002
    ..We also examine the possibility that some rare human conditions associated with abnormal muscle formation may be due to genetic defects in one of the myogenic regulatory genes...
  83. ncbi request reprint [Dilated cardiomyopathy: role of clinical and instrumental evaluation of the neuromuscular system]
    Francesco Muntoni
    Department of Paediatrics and Neonatal Medicine, Imperial College, Faculty of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Ital Heart J Suppl 3:399-404. 2002
    ..This article is focused on practical clinical suggestions on when to suspect and how to investigate patients with a cardiomyopathy secondary to neuromuscular disorders...
  84. ncbi request reprint The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I
    Martin Brockington
    Neuromuscul Disord 12:233-4. 2002
  85. ncbi request reprint Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
    Matthew R G Taylor
    University of Colorado Cardiovascular Institute, Denver, Colorado 80010, USA
    J Am Coll Cardiol 41:771-80. 2003
    ..We examined the prevalence, genotype-phenotype correlation, and natural history of lamin A/C gene (LMNA) mutations in subjects with dilated cardiomyopathy (DCM)...
  86. ncbi request reprint Phenotypic spectrum associated with mutations in the fukutin-related protein gene
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom
    Ann Neurol 53:537-42. 2003
    ..MDC1C patients either carried 2 missense or 1 missense and 1 nonsense mutations. Patients with LGMD2I shared a common mutation (C826A,Leu276Ileu) and their phenotypic severity was correlated with the second allelic mutation...
  87. ncbi request reprint Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype
    Yoram Nevo
    Pediatric Neuromuscular Service, Institute for Child Development, Pediatric Neurology Unit, Tel Aviv, Israel
    Isr Med Assoc J 5:94-7. 2003
    ..Large in-frame deletions involving the rod domain only have usually been associated with mild (BMD) phenotype...
  88. ncbi request reprint Muscular dystrophy campaign sponsored workshop: recommendation for respiratory care of children with spinal muscular atrophy type II and III. 13th February 2002, London, UK
    Adnan Y Manzur
    Department of Paediatrics, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London W12 ONN, UK
    Neuromuscul Disord 13:184-9. 2003
  89. ncbi request reprint Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry
    Martin Brockington
    Dubowitz Neuromuscular Centre, Department of Pediatrics, Hammersmith Hospital, Imperial College London, UK
    Prenat Diagn 24:440-4. 2004
    ..We undertook two prenatal diagnoses for UCMD in a consanguineous family where the disease was consistent with linkage to the COL6A3 locus and immunolabelling of collagen VI in the proband's skeletal muscle was severely reduced...
  90. ncbi request reprint Glycosylation eases muscular dystrophy
    Francesco Muntoni
    Nat Med 10:676-7. 2004
  91. ncbi request reprint Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Hammersmith Hospital Imperial College, London, England
    Arch Neurol 61:690-4. 2004
    ..Mutations of the LMNA gene, encoding the nuclear envelope proteins lamins A and C, have been associated with 7 distinct pathologic conditions...
  92. ncbi request reprint In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy
    Niaz Cohen
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
    Biochem Biophys Res Commun 317:1215-20. 2004
    ..Furthermore, the cultured cell system used can serve as a suitable model to study human alternative splicing...
  93. ncbi request reprint Defective glycosylation in congenital muscular dystrophies
    Francesco Muntoni
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College of Medicine, Hammersmith Hospital, London, UK
    Curr Opin Neurol 17:205-9. 2004
    ..This article provides an overview of the clinical, biochemical and genetic advances that have been made over the last year in this field...
  94. ncbi request reprint Fatal infantile neuromuscular presentation of glycogen storage disease type IV
    Stacey K H Tay
    Department of Neurology, College of Physicians and Surgeons, Columbia University, 4 420, 630 West 168th Street, New York, NY 10032, USA
    Neuromuscul Disord 14:253-60. 2004
    ..The infantile neuromuscular form of glycogen storage disease type IV is considered extremely rare, but our encountering two patients in close succession suggests that the disease may be underdiagnosed...
  95. pmc Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies
    Susan C Brown
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom
    Am J Pathol 164:727-37. 2004
    ....
  96. ncbi request reprint A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan
    Pervin Dincer
    Department of Medical Biology, Hacettepe University, Ankara, Turkey
    Neuromuscul Disord 13:771-8. 2003
    ..The biochemical studies suggest that it may belong to the growing number of muscular dystrophies with abnormal expression of alpha-dystroglycan...
  97. ncbi request reprint Dystrophin and mutations: one gene, several proteins, multiple phenotypes
    Francesco Muntoni
    Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, UK
    Lancet Neurol 2:731-40. 2003
    ..Here, we focus on current understanding of the genotype-phenotype relation for mutations in the dystrophin gene and their implications for gene functions...
  98. ncbi request reprint Skeletal muscle involvement in infantile systemic hyalinosis
    Zarazuela Zolkipli
    Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammesmith Hospital, Imperial College London, London W12 0NN, UK
    Eur J Paediatr Neurol 7:401-6. 2003
    ..Muscle biopsy revealed myopathic changes, which have not been reported previously. We suggest that skeletal muscle is involved in Infantile Systemic Hyalinosis and contributes to the characteristic poor outcome of these patients...
  99. ncbi request reprint Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
    Cheryl Longman
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Campus, London, UK
    Hum Mol Genet 12:2853-61. 2003
    ..This is the first description of mutations in the human LARGE gene and we propose to name this new disorder MDC1D...
  100. ncbi request reprint Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality
    Francesca Gualandi
    Sezione di Genetica Medica, Dipartimento di Medicina Sperimentale e Diagnostica, Universita di Ferrara, Via L Borsari 46, 44100 Ferrara, Italy
    Gene 311:25-33. 2003
    ..The definition of this mechanism might open perspectives in unravelling splicing regulatory motifs and their involvement in human genetic diseases...
  101. ncbi request reprint Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome
    Cecilia Jimenez-Mallebrera
    Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, London, UK
    Eur J Paediatr Neurol 7:129-37. 2003
    ....