Heinz Jungbluth

Summary

Affiliation: Guy's and St Thomas' NHS Foundation Trust
Country: UK

Publications

  1. ncbi request reprint Characterization of recessive RYR1 mutations in core myopathies
    Haiyan Zhou
    The Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
    Hum Mol Genet 15:2791-803. 2006
  2. doi request reprint Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm
    Susan Treves
    Dipartimento di Medicina Sperimentale e Diagnostica, Universita di Ferrara, 44100 Ferrara, Italy
    Curr Opin Pharmacol 8:319-26. 2008
  3. doi request reprint X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10
    N Trump
    DNA Laboratory, GSTS Pathology, Guy s Hospital, London, UK
    Neuromuscul Disord 22:384-8. 2012
  4. pmc Central core disease
    Heinz Jungbluth
    Evelina Children s Hospital, Department of Paediatric Neurology, St Thomas Hospital, London, UK
    Orphanet J Rare Dis 2:25. 2007
  5. pmc Centronuclear (myotubular) myopathy
    Heinz Jungbluth
    Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, London, UK
    Orphanet J Rare Dis 3:26. 2008
  6. doi request reprint Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
    Heinz Jungbluth
    Clinical Neuroscience Division, King s College, London, UK
    Neuromuscul Disord 19:344-7. 2009
  7. doi request reprint Core myopathies
    Heinz Jungbluth
    Clinical Neuroscience Division, Institute of Psychiatry, King s College London, London, UK
    Semin Pediatr Neurol 18:239-49. 2011
  8. doi request reprint Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation
    Heinz Jungbluth
    Clinical Neuroscience Division, King s College, London, UK
    Neuromuscul Disord 20:49-52. 2010
  9. pmc Multi-minicore Disease
    Heinz Jungbluth
    Department of Paediatric Neurology, Evelina Children s Hospital, St Thomas Hospital, London, UK
    Orphanet J Rare Dis 2:31. 2007
  10. 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

Detail Information

Publications42

  1. ncbi request reprint Characterization of recessive RYR1 mutations in core myopathies
    Haiyan Zhou
    The Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London, UK
    Hum Mol Genet 15:2791-803. 2006
    ..Taken together, our data suggest major differences in the ways RYR1 mutations may affect patients with core myopathies, by compromising RyR1 protein expression, stability and/or activity...
  2. doi request reprint Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm
    Susan Treves
    Dipartimento di Medicina Sperimentale e Diagnostica, Universita di Ferrara, 44100 Ferrara, Italy
    Curr Opin Pharmacol 8:319-26. 2008
    ..In this review, we discuss the classes of RYR1 mutations which have been associated with CCD, MmD and related neuromuscular phenotypes...
  3. doi request reprint X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10
    N Trump
    DNA Laboratory, GSTS Pathology, Guy s Hospital, London, UK
    Neuromuscul Disord 22:384-8. 2012
    ..Our findings suggest that complex rearrangements have to be considered in typically affected males with X-linked myotubular myopathy...
  4. pmc Central core disease
    Heinz Jungbluth
    Evelina Children s Hospital, Department of Paediatric Neurology, St Thomas Hospital, London, UK
    Orphanet J Rare Dis 2:25. 2007
    ..In the majority of patients, weakness is static or only slowly progressive, with a favourable long-term outcome...
  5. pmc Centronuclear (myotubular) myopathy
    Heinz Jungbluth
    Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, London, UK
    Orphanet J Rare Dis 3:26. 2008
    ..Whereas the X-linked form due to MTM1 mutations is often fatal in infancy, dominant forms due to DNM2 mutations and some cases of the recessive BIN1-related form appear to be associated with an overall more favourable prognosis...
  6. doi request reprint Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
    Heinz Jungbluth
    Clinical Neuroscience Division, King s College, London, UK
    Neuromuscul Disord 19:344-7. 2009
    ..Late-onset congenital myopathies may be under-recognised and diagnosis requires a high degree of clinical suspicion...
  7. doi request reprint Core myopathies
    Heinz Jungbluth
    Clinical Neuroscience Division, Institute of Psychiatry, King s College London, London, UK
    Semin Pediatr Neurol 18:239-49. 2011
    ....
  8. doi request reprint Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation
    Heinz Jungbluth
    Clinical Neuroscience Division, King s College, London, UK
    Neuromuscul Disord 20:49-52. 2010
    ..Our findings expand the phenotypical spectrum associated with DNM2 mutations and provide a new clinical indicator for involvement of this gene in patients with centronuclear myopathy...
  9. pmc Multi-minicore Disease
    Heinz Jungbluth
    Department of Paediatric Neurology, Evelina Children s Hospital, St Thomas Hospital, London, UK
    Orphanet J Rare Dis 2:31. 2007
    ..In the majority of patients, weakness is static or only slowly progressive, with the degree of respiratory impairment being the most important prognostic factor...
  10. 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...
  11. 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
    ....
  12. pmc Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing
    Mariacristina Scoto
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK
    Eur J Hum Genet 21:1249-52. 2013
    ..This case illustrates that NEB mutations can cause childhood onset distal NM, with additional cores on muscle biopsy and proves the diagnostic utility of NGS for myopathies, particularly when large genes are implicated...
  13. pmc Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene
    Haiyan Zhou
    Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK
    Neuromuscul Disord 20:166-73. 2010
    ..We conclude that RYR1 mutations may give rise to both myopathies and atypical periodic paralysis, and RYR1 mutations may underlie other unresolved cases of periodic paralysis with unusual features...
  14. doi request reprint The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy
    Henry Houlden
    Department of Molecular Neurosciences and The MRC Centre for Neuromuscular diseases, The National Hospital for Neurology and Neurosurgery, The Institute of Neurology, Queen Square, London, WC1N 3BG, England, UK
    Neuromuscul Disord 19:264-9. 2009
    ....
  15. 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...
  16. doi request reprint RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling
    Haiyan Zhou
    Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, London, UK
    Hum Mutat 34:986-96. 2013
    ..These results indicate that in some patients, RyR1 deficiency concomitantly alters the expression pattern of several proteins involved in calcium homeostasis and that this may influence the manifestation of these diseases...
  17. doi request reprint Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
    Stephanie A Robb
    The Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Neuromuscul Disord 21:379-86. 2011
    ..Treatment with acetylcholinesterase inhibitors may benefit some CNM patients. This warrants further confirmation...
  18. doi request reprint Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene
    Nomazulu Dlamini
    Department of Paediatric Neurology Neuromuscular Service, Evelina Children s Hospital, Guy s and St Thomas NHS Foundation Trust, UK
    Neuromuscul Disord 23:391-8. 2013
    ..Ubiquitin-proteasome pathway defects may not only cause neurodegeneration but also affect normal neuronal development...
  19. pmc Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
    Thomas Cullup
    DNA Laboratory, Guy s and St Thomas Serco Pathology, Guy s Hospital, London, UK
    Nat Genet 45:83-7. 2013
    ....
  20. ncbi request reprint White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene
    Artemis D Gika
    Department of Paediatric Neurology, Evelina Children s Hospital, Guy s and St Thomas NHS Foundation Trust, London, UK
    Dev Med Child Neurol 52:475-82. 2010
    ..The aim of this study was to describe neuroimaging findings and neurological features in males with SLC16A2 gene mutations...
  21. ncbi request reprint What's new in neuromuscular disorders? The congenital myopathies
    Heinz Jungbluth
    Dubowitz Neuromuscular Centre, Hammersmith Hospital, Imperial College Faculty of Medicine, London, UK
    Eur J Paediatr Neurol 7:23-30. 2003
    ..The following review summarizes recent genetic findings in the congenital myopathies and outlines implications for our understanding of their pathophysiological basis and their relation to other neuromuscular disorders...
  22. 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...
  23. pmc Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
    A Reghan Foley
    1 Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Disorders, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, WC1N 1EH, UK
    Brain 137:44-56. 2014
    ....
  24. doi request reprint Infantile onset myofibrillar myopathy due to recessive CRYAB mutations
    Katharine M L Forrest
    Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, London, UK
    Neuromuscul Disord 21:37-40. 2011
    ..These findings suggest a severe, recessively inherited form of CRYAB-related myofibrillar myopathy. Profound muscle stiffness as the main presenting feature indicates αB-crystallin as a potent modifier of muscle contractility...
  25. ncbi request reprint Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group
    Fiona Norwood
    Department of Neurology, Ruskin Wing, King s College Hospital, Denmark Hill, London, UK
    J Neurol Neurosurg Psychiatry 85:538-43. 2014
    ....
  26. doi request reprint Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease)
    Nomazulu Dlamini
    Department of Paediatric Neurology Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, Lambeth Palace Road, London SE1 7EH, United Kingdom
    Neuromuscul Disord 18:408-9. 2008
  27. doi request reprint Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
    Verity McClelland
    Department of Paediatric Neurology, Evelina Children s Hospital, Guy s and St Thomas NHS Foundation Trust, London, UK
    Am J Med Genet A 152:741-7. 2010
    ....
  28. doi request reprint BAG3 mutations: another cause of giant axonal neuropathy
    Fatima Jaffer
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK
    J Peripher Nerv Syst 17:210-6. 2012
    ..This report confirms the association of giant axonal neuropathy with BAG3-associated myofibrillar myopathy, and highlights that neuropathy may be a significant feature...
  29. ncbi request reprint A short protocol for muscle MRI in children with muscular dystrophies
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial School of Medicine, Hammersmith Hospital, London, UK
    Eur J Paediatr Neurol 6:305-7. 2002
    ....
  30. doi request reprint Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin
    Katharine Forrest
    Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, Lambeth Palace Road, London, UK
    Neuromuscul Disord 20:709-11. 2010
    ..We conclude that PLEC1 should be considered in the differential diagnosis of congenital muscular dystrophies and myasthenic syndromes, even in the absence of prominent skin involvement...
  31. doi request reprint Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases
    Claire T Lundy
    Department of Paediatric Neurology, Evelina Children s Hospital, Guy s and St Thomas NHS Foundation Trust, St Thomas Hospital, London, UK
    Pediatr Neurol 43:351-4. 2010
    ..Reported here are the cases of the only three children diagnosed to date in the United Kingdom with adenylosuccinate lyase deficiency, to further delineate the clinical phenotype and to raise awareness of this disorder...
  32. doi request reprint Myopathic causes of exercise intolerance with rhabdomyolysis
    Ros Quinlivan
    MRC Centre for Neuromuscular Diseases, Institute of Neurology, National Hospital, London, UK
    Dev Med Child Neurol 54:886-91. 2012
    ..A careful history and examination and laboratory confirmation of myoglobinuria will target investigations leading to a correct molecular diagnosis...
  33. ncbi request reprint A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene
    Ana Ferreiro
    INSERM U523, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris, France
    Ann Neurol 51:750-9. 2002
    ..This subgroup of families linked to 19q13 represents the first variant of central core disease with genetically proven recessive inheritance and transient presentation as multi-minicore disease...
  34. pmc Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies
    Haiyan Zhou
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College, Hammersmith Hospital London, United Kingdom
    Am J Hum Genet 79:859-68. 2006
    ..Furthermore, our data suggest that imprinting is a likely mechanism for this phenomenon and that similar mechanisms could play a role in human phenotypic heterogeneity...
  35. 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
  36. ncbi request reprint Functional effects of mutations identified in patients with multiminicore disease
    Francesco Zorzato
    Dipartimento di Medicina Sperimentale e Diagnostica, Universita di Ferrara Ferrara Italy
    IUBMB Life 59:14-20. 2007
    ..In the present review we discuss the most recent findings on the functional effect of mutations in SEPN1 and RYR1 and discuss how they may adversely affect muscle function and lead to the clinical phenotype...
  37. ncbi request reprint Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
    Haiyan Zhou
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, London W12 0NN
    Brain 130:2024-36. 2007
    ..Our data represent the most extensive study of RYR1-related myopathies and indicate complex genotype-phenotype correlations associated with mutations differentially affecting assembly and function of the RyR1 calcium release channel...
  38. 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...
  39. 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...
  40. pmc Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes
    Sylvie Ducreux
    Department of Anaesthesia and Research, Basel University Hospital, 4031 Basel, Switzerland
    Biochem J 395:259-66. 2006
    ....
  41. ncbi request reprint MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement
    Joachim Schessl
    Division of Neurology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Neuromuscul Disord 17:28-32. 2007
    ..These characteristic findings on muscle MRI confirm similar findings reported for CT imaging in dynamin 2 related dominant centronuclear myopathy and may help to differentiate this disorder from central core disease and other myopathies...
  42. 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
    ....