N G Laing

Summary

Affiliation: University of Western Australia
Country: Australia

Publications

  1. ncbi request reprint Distal myopathies
    Frank L Mastaglia
    Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Perth, Western Australia, Australia
    Curr Opin Neurol 18:504-10. 2005
  2. ncbi request reprint Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred
    David O Hutchinson
    Department of Neurology, Auckland City Hospital, Private Bag, Auckland 92024, New Zealand
    Neuromuscul Disord 16:113-21. 2006
  3. doi request reprint Genetics of neuromuscular disorders
    Nigel G Laing
    Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia
    Crit Rev Clin Lab Sci 49:33-48. 2012
  4. ncbi request reprint Actin mutations are one cause of congenital fibre type disproportion
    Nigel G Laing
    Centre for Neuromuscular and Neurological Disorders, University of Western Australia
    Ann Neurol 56:689-94. 2004
  5. ncbi request reprint Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases
    N G Laing
    Centre for Neuromuscular and Neurologic Disorders, Australian Neuromuscular Research Institute and Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, Australia
    Neurology 64:527-9. 2005
  6. ncbi request reprint When contractile proteins go bad: the sarcomere and skeletal muscle disease
    Nigel G Laing
    Centre for Medical Research, University of Western Australia, West Australian Institute for Medical Research, Nedlands, Western Australia, Australia
    Bioessays 27:809-22. 2005
  7. ncbi request reprint Inherited disorders of sarcomeric proteins
    N G Laing
    Australian Neuromuscular Research Institute, Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Nedlands, Australia
    Curr Opin Neurol 12:513-8. 1999
  8. ncbi request reprint Inherited skeletal muscle disorders
    N G Laing
    University of Western Australia, QEII Medical Centre, Nedlands, Australia
    Ann Hum Biol 26:507-25. 1999
  9. ncbi request reprint More surprises in sarcomeric protein diseases
    Nigel G Laing
    Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, Western Australia, Australia
    Brain 130:1453-5. 2007
  10. ncbi request reprint Congenital myopathies
    Nigel G Laing
    Centre for Medical Research, University of Western Australia and Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia
    Curr Opin Neurol 20:583-9. 2007

Detail Information

Publications64

  1. ncbi request reprint Distal myopathies
    Frank L Mastaglia
    Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Perth, Western Australia, Australia
    Curr Opin Neurol 18:504-10. 2005
    ..This article summarizes the findings of recent clinical, genetic and molecular studies and the current diagnostic approach to this group of patients...
  2. ncbi request reprint Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred
    David O Hutchinson
    Department of Neurology, Auckland City Hospital, Private Bag, Auckland 92024, New Zealand
    Neuromuscul Disord 16:113-21. 2006
    ..Actin is normally present within the nucleus in only trace amounts. Mutation at postion 163 may result in intranuclear rods by virtue of its close proximity to a nuclear export signal within the actin molecule...
  3. doi request reprint Genetics of neuromuscular disorders
    Nigel G Laing
    Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia
    Crit Rev Clin Lab Sci 49:33-48. 2012
    ..The aim of this review is to describe molecular diagnosis of genetic neuromuscular disorders in the past, the present and speculate on the future...
  4. ncbi request reprint Actin mutations are one cause of congenital fibre type disproportion
    Nigel G Laing
    Centre for Neuromuscular and Neurological Disorders, University of Western Australia
    Ann Neurol 56:689-94. 2004
    ..There were no clinical features specific to CFTD cases with ACTA1 mutations, but the presence of normal eye movements in a severe CFTD patient may be an important clue for the presence of a mutation in ACTA1...
  5. ncbi request reprint Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases
    N G Laing
    Centre for Neuromuscular and Neurologic Disorders, Australian Neuromuscular Research Institute and Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, Australia
    Neurology 64:527-9. 2005
    ..The authors have identified the arginine 1845 tryptophan mutation found in the Swedish families in two isolated Belgian cases, indicating a critical role for myosin residue arginine 1845...
  6. ncbi request reprint When contractile proteins go bad: the sarcomere and skeletal muscle disease
    Nigel G Laing
    Centre for Medical Research, University of Western Australia, West Australian Institute for Medical Research, Nedlands, Western Australia, Australia
    Bioessays 27:809-22. 2005
    ..The affected patients and families hope for help sooner rather than later. The onus is on all scientists researching sarcomeric proteins to help develop treatments...
  7. ncbi request reprint Inherited disorders of sarcomeric proteins
    N G Laing
    Australian Neuromuscular Research Institute, Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Nedlands, Australia
    Curr Opin Neurol 12:513-8. 1999
    ....
  8. ncbi request reprint Inherited skeletal muscle disorders
    N G Laing
    University of Western Australia, QEII Medical Centre, Nedlands, Australia
    Ann Hum Biol 26:507-25. 1999
    ..The major challenges for the future are to understand the pathophysiology of the diseases, now that the genes are being identified, and then to develop successful therapies...
  9. ncbi request reprint More surprises in sarcomeric protein diseases
    Nigel G Laing
    Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, Western Australia, Australia
    Brain 130:1453-5. 2007
  10. ncbi request reprint Congenital myopathies
    Nigel G Laing
    Centre for Medical Research, University of Western Australia and Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia
    Curr Opin Neurol 20:583-9. 2007
    ..The aim of this review is to provide an up-to-date personal analysis of current congenital myopathy research...
  11. doi request reprint Multiplicity of experimental approaches to therapy for genetic muscle diseases and necessity for population screening
    Nigel G Laing
    Centre for Medical Research, Western Australian Institute for Medical Research, QEII Medical Centre, University of Western Australia, B Block, Hovea Lane, Nedlands, Western Australia, 6009, Australia
    J Muscle Res Cell Motil 29:247-52. 2008
    ..Population-based newborn screening is currently practised in very few places in the world and it brings with it implications for prevention rather than cure of genetic muscle diseases...
  12. pmc Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)
    Nigel G Laing
    Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, QEII Medical Centre, Western Australia, Australia
    Hum Mutat 30:1267-77. 2009
    ..To aid molecular diagnosis and establishing genotype-phenotype correlations, we have developed a locus-specific database for ACTA1 variations (http://waimr.uwa.edu.au)...
  13. ncbi request reprint Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
    K J Nowak
    Centre for Neuromuscular Disorders, University of Western Australia, Nedlands, Western Australia 6009, Australia
    Nat Genet 23:208-12. 1999
    ..We also identified de novo mutations in seven sporadic probands for which it was possible to analyse parental DNA...
  14. ncbi request reprint Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation
    S D Wilton
    Australian Neuromuscular Research Institute, QE II Medical Centre, Nedlands
    Am J Med Genet 46:563-9. 1993
    ..Specific primers to detect the splice-site mutation have been designed and used to genotype all relatives...
  15. ncbi request reprint Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family
    S D Wilton
    Australian Neuromuscular Research Institute, QE II Medical Centre, Nedlands
    Hum Mutat 3:133-40. 1994
    ..The application of linked markers to identify the disease allele for conventional genetic counselling would have been erroneous in this family and highlights the diagnostic power of precise identification of the disease-causing mutation...
  16. ncbi request reprint Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
    M R Davis
    Department of Anatomical Pathology, Royal Perth Hospital, Wellington Street, 6000, Western Australia, Perth, Australia
    Neuromuscul Disord 13:151-7. 2003
    ....
  17. ncbi request reprint De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy
    H J Durling
    Neurogenetics Laboratory, Royal Perth Hospital, Western Australia, Perth, Australia
    Neuromuscul Disord 12:947-51. 2002
    ....
  18. ncbi request reprint Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion
    K J Nowak
    Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia, Perth
    Neuromuscul Disord 10:100-7. 2000
    ..The fact that the affected individuals in the current and Gypsy families are gamma-sarcoglycan negative may indicate that codons 69 and 283 are important in gamma-sarcoglycan function...
  19. ncbi request reprint Snapback SSCP analysis: engineered conformation changes for the rapid typing of known mutations
    S D Wilton
    Department of Pathology, University of Western Australia, Australian Neuromuscular Research Institute, QE II Medical Centre, Nedlands
    Hum Mutat 11:252-8. 1998
    ..This approach could be applied to the routine screening of other known mutations that are not amenable to detection by simple SSCP analysis...
  20. ncbi request reprint Early onset chromosome 14-linked distal myopathy (Laing)
    F L Mastaglia
    Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Australian Neuromuscular Research Institute, Nedlands, Australia
    Neuromuscul Disord 12:350-7. 2002
    ..2-q13. The linkage region has been refined to a 24 cM region between D14S283 and D14S49 and mutations have been excluded in the PABP2 gene for oculopharyngeal muscular dystrophy which lies within this region...
  21. ncbi request reprint Assignment of the human alpha-tropomyosin gene TPM4 to band 19p13.1 by fluorescence in situ hybridization
    S D Wilton
    Australian Neuromuscular Research Institute, QE II Medical Centre, Nedlands, Western Australia, Australia
    Cytogenet Cell Genet 72:294-6. 1996
    ..The other, a product from a long-range PCR, was used directly as a probe to refine the localization of TPM4 to 19p13.1 by fluorescence in situ hybridization to metaphase chromosome spreads...
  22. pmc Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
    F L Mastaglia
    Australian Neuromuscular Research Institute, Departments of Medicine, University of Western Australia, Department of Medicine, 6009, Australia
    J Neurol Neurosurg Psychiatry 67:174-9. 1999
    ..The gene defects in families with intermediate HMSN are not known, but it has been suggested that most have X linked HMSN...
  23. ncbi request reprint Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisation
    P A Akkari
    Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands
    Cytogenet Cell Genet 65:265-7. 1994
    ..Using fluorescence in situ hybridization the localization has been confirmed and the ACTA1 gene precisely mapped to 1q42...
  24. ncbi request reprint Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy
    P Tan
    Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands, Western Australia
    Neuromuscul Disord 9:573-9. 1999
    ..The patient should have no functioning alpha-tropomyosin slow protein. The nemaline bodies in this patient were exclusively in type one fibres, consistent with the expression of TPM3 only in type one fibres...
  25. ncbi request reprint A splice-site mutation causing ovine McArdle's disease
    P Tan
    Department of Pathology, University of Western Australia, Nedlands, Australia
    Neuromuscul Disord 7:336-42. 1997
    ..This eliminated an XbaI site present in normal sheep allowing diagnosis of normal, affected and carrier sheep. This ovine model of McArdle's disease is now available for therapeutic trials...
  26. ncbi request reprint Assignment of the human a-tropomyosin gene TPM3 to 1q22-->q23 by fluorescence in situ hybridisation
    S D Wilton
    Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands
    Cytogenet Cell Genet 68:122-4. 1995
    ..The 1q22-->q23 localization of TPM3 is within the NEM1 locus associated with autosomal dominant nemaline myopathy, making TPM3 a candidate for this disorder...
  27. ncbi request reprint A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
    N G Laing
    Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia
    Nat Genet 9:75-9. 1995
    ..The mutation may strengthen tropomyosin - actin binding, leading to rod body formation, by adding a further basic residue to the postulated actin-binding motif...
  28. ncbi request reprint Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)
    William Wallefeld
    Molecular Neurogenetics Laboratory, Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia
    Neuromuscul Disord 16:541-7. 2006
    ..Western blotting of one patient's muscle demonstrated the presence of the larger protein, while expression of one of the other mutant proteins fused to EGFP in C2C12 cells demonstrated the formation of rod bodies...
  29. ncbi request reprint Four type I equine microsatellites associated with the MITF, KIT, ATP2A1 and GDAP1 genes
    L M Blechynden
    Australian Equine Neuromuscular Research Group, Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Nedlands, WA, Australia
    Anim Genet 33:387-8. 2002
  30. ncbi request reprint Effectiveness of posthumous molecular diagnosis from a kept baby tooth
    Helen Leonard
    Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia
    Lancet 366:1584. 2005
  31. ncbi request reprint Dissociated flexor digitorum brevis myofiber culture system--a more mature muscle culture system
    Gianina Ravenscroft
    Centre for Medical Research, The University of Western Australia, West Australian Institute for Medical Research, Nedlands, Western Australia, Australia
    Cell Motil Cytoskeleton 64:727-38. 2007
    ..Moreover, it may be a useful system for screening therapeutic agents for the treatment of skeletal muscle disorders...
  32. ncbi request reprint Novel application of flow cytometry: determination of muscle fiber types and protein levels in whole murine skeletal muscles and heart
    Connie Jackaman
    Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia 6009, Australia
    Cell Motil Cytoskeleton 64:914-25. 2007
    ....
  33. doi request reprint Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies
    Gianina Ravenscroft
    Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia
    Brain 134:1101-15. 2011
    ..This is the first experimental, as opposed to observational, evidence that mutant protein load determines the severity of ACTA1 disease...
  34. pmc Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin
    Kristen J Nowak
    Centre for Medical Research, School of Biomedical, Biomolecular, and Chemical Sciences, The University of Western Australia, Perth, Western Australia 6009, Australia
    J Cell Biol 185:903-15. 2009
    ..This raises the prospect that ACTC reactivation might provide a therapy for ACTA1 diseases. In addition, the mouse model will allow analysis of the precise functional differences between ACTA1 and ACTC...
  35. ncbi request reprint Nemaline myopathy caused by absence of alpha-skeletal muscle actin
    Kristen J Nowak
    Centre for Medical Research, University of Western Australia, Nedlands, Australia, and Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, UK
    Ann Neurol 61:175-84. 2007
    ..Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator-dependent, but one, at 30 months, is sitting with minimal support. All parents were unaffected...
  36. ncbi request reprint Dystrophin gene transcripts skipping the mdx mutation
    S D Wilton
    Australian Neuromuscular Research Institute, QE III Medical Centre, Nedlands, Western Australia
    Muscle Nerve 20:728-34. 1997
    ..Specific tests for these transcripts demonstrated these were also present in normal mouse muscle tissue...
  37. ncbi request reprint A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia
    B K Ward
    Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia
    Hum Mutat 10:233-5. 1997
  38. doi request reprint Expression of cardiac alpha-actin spares extraocular muscles in skeletal muscle alpha-actin diseases--quantification of striated alpha-actins by MRM-mass spectrometry
    Gianina Ravenscroft
    Centre for Medical Research, University of Western Australia and Western Australian Institute for Medical Research, B Block, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia
    Neuromuscul Disord 18:953-8. 2008
    ....
  39. ncbi request reprint Production of human skeletal alpha-actin proteins by the baculovirus expression system
    P Anthony Akkari
    Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Australian Neuromuscular Research Institute, 4th Floor, A Block, QEII Medical Centre, Nedlands, 6009, Western Australia, Australia
    Biochem Biophys Res Commun 307:74-9. 2003
    ..The BEVS therefore is the method of choice for studying mutant actin proteins causing human diseases...
  40. ncbi request reprint Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred
    Danielle E Dye
    Molecular Neurogenetics Laboratory, Centre for Medical Research, West Australian Institute for Medical Research, University of Western Australia M519, B Block, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia
    Neuromuscul Disord 16:357-60. 2006
    ..We have identified a novel heterozygous Leu1793Pro mutation in MYH7 in DNA from paraffin sections of one of the original siblings. This historical molecular analysis confirms the original cases had myosin storage myopathy...
  41. ncbi request reprint Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?
    N G Laing
    Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands, Western Australia
    Am J Med Genet 42:688-92. 1992
    ..The DNA data for this family are reported and the alternative explanations of chance occurrence and premutation are discussed to explain these unusual findings...
  42. ncbi request reprint Characterisation of the chicken Cu,Zn superoxide dismutase gene
    J L Stanton
    Australian Neuromuscular Research Institute, Queen Elizabeth II Medical Centre, Nedlands, Australia
    DNA Seq 6:357-60. 1996
    ..This sequence was compared to SOD1 from bovine, human and Xenopus laevis. Important structural features of SOD1 are shown to be conserved in the chicken gene...
  43. doi request reprint Evidence of altered guinea pig ventricular cardiomyocyte protein expression and growth in response to a 5 min in vitro exposure to H(2)O(2)
    Vidya Seenarain
    School of Biomedical, Biomolecular and Chemical Sciences, The University of Western Australia, Western Australia, Australia
    J Proteome Res 9:1985-94. 2010
    ..Changes in mitochondrial protein expression and function appear to be early sequelae in the development of hypertrophy...
  44. ncbi request reprint Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2
    Vilma Lotta Lehtokari
    The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland, and Division of Neurology, University Hospital of Antwerp, Antwerpen, Belgium
    Neuromuscul Disord 17:433-42. 2007
    ..Missense mutations in TPM2 have previously been found to cause rare cases of nemaline myopathy and distal arthrogryposis. This mutation is one not previously described and the first genetic cause identified for cap disease...
  45. pmc Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2
    Pankaj B Agrawal
    Genomics Program, the Divisions of Genetics and Neonatology, Children s Hospital Boston, Boston, MA, 02115, USA
    Am J Hum Genet 80:162-7. 2007
    ....
  46. ncbi request reprint Myosin storage (hyaline body) myopathy: a case report
    Meena V Shingde
    Department of Pathology, University of Sydney, Australia
    Neuromuscul Disord 16:882-6. 2006
    ..This case report adds to the clinical description of this rare disorder and confirms that Arg1845Trp is a common mutation associated with this phenotype, at least in the White European population...
  47. ncbi request reprint Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations
    Pankaj B Agrawal
    Genomics Program and Division of Genetics, Children s Hospital Boston, MA 02115, USA
    Ann Neurol 56:86-96. 2004
    ..Overall, ACTA1 mutations are a common cause of NM, accounting for more than half of severe cases and 26% of all NM cases in this series...
  48. pmc Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)
    Christopher Meredith
    Centre for Human Genetics, Edith Cowan University, Perth, Australia
    Am J Hum Genet 75:703-8. 2004
    ..These findings demonstrate that heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy. MYH7 is the fourth distal-myopathy gene to have been identified...
  49. ncbi request reprint Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects
    Celine F Costa
    School of Biosciences, Division of Molecular Cell Biology, University of Birmingham, B15 2TT, UK
    J Cell Sci 117:3367-77. 2004
    ..Overall, we found a range of defects and behaviors of the mutants in vitro and in cultured cells, paralleling the complexity of actin-based muscle myopathy phenotypes...
  50. 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...
  51. ncbi request reprint Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms
    Biljana Ilkovski
    The Institute for Neuromuscular Research, The Children s Hospital at Westmead, Australia
    Hum Mol Genet 13:1727-43. 2004
    ..A combination of these effects contributes to the common pathological hallmarks of NM, namely intranuclear and cytoplasmic rod formation, accumulation of thin filaments and myofibrillar disorganization...
  52. ncbi request reprint Myopathies resulting from mutations in sarcomeric proteins
    CARSTEN G BONNEMANN
    Division of Neurology and Pennsylvania Muscle Institute, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Curr Opin Neurol 17:529-37. 2004
    ..The past decade has seen the discovery of the major role that mutations in the protein components of the sarcomere plays as a cause of human muscle disease. An overview of the more precise molecular definitions of these diseases is timely...
  53. ncbi request reprint Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)
    John C Sparrow
    Department of Biology, University of York, York, YO10 5DD, UK
    Neuromuscul Disord 13:519-31. 2003
    ..g. actin myopathy. This would suggest that interference with certain actin functions may be more associated with certain phenotypes, though the exact pathophysiology of the actin mutations remains unknown...
  54. ncbi request reprint Actin-related myopathy without any missense mutation in the ACTA1 gene
    Hans H Goebel
    Department of Neuropathology, Johannes Gutenberg University Medical Center, Mainz, Germany
    J Child Neurol 19:149-53. 2004
    ....
  55. 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...
  56. ncbi request reprint Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin gene
    Helly Goez
    Child Development Center, Rakati, Tiberias, Israel
    J Child Neurol 20:236-9. 2005
    ..Molecular DNA analysis by polymerase chain reaction (PCR) and direct sequencing revealed a de novo heterozygous missense mutation in the skeletal muscle alpha-actin gene (ACTA1) changing codon 348 from TCG serine to TTG leucine...
  57. ncbi request reprint Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
    Vilma Lotta Lehtokari
    The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Hum Mutat 27:946-56. 2006
    ..Patients with more severe clinical pictures tended to have mutations predicted to be more disruptive than patients with milder forms...
  58. ncbi request reprint A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis
    Hatice Aksoy
    Department of Neurology, Burhan Nalbantoglu Hospital, Lefkosa Nicosia, Cyprus, UK
    Neuroepidemiology 22:235-8. 2003
    ..The A4T mutation, with one exception, was of similar severity to the A4V mutation...
  59. ncbi request reprint Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy
    Hans H Goebel
    J Child Neurol 21:545. 2006
  60. pmc Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy
    Biljana Ilkovski
    Institute for Neuromuscular Research, The Children s Hospital at Westmead, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia
    J Neuropathol Exp Neurol 67:867-77. 2008
    ..Collectively, these results provide insights into the clinical features and pathogenesis of M9R-TPM3 nemaline myopathy...
  61. doi request reprint Mutations in TPM3 are a common cause of congenital fiber type disproportion
    Nigel F Clarke
    Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    Ann Neurol 63:329-37. 2008
    ..The gene encoding alpha-tropomyosin(slow) (TPM3) is a rare cause of nemaline myopathy, previously reported in only five families. We investigated whether mutation of TPM3 is a cause of CFTD...
  62. ncbi request reprint An alphaTropomyosin mutation alters dimer preference in nemaline myopathy
    Mark A Corbett
    The Muscle Development Unit, The Children s Medical Research Institute, Wentworthville, New South Wales 2145, Australia
    Ann Neurol 57:42-9. 2005
    ..We suggest this perturbation of tropomyosin isoform levels and dimer preference alters sarcomeric thin filament dynamics and contributes to muscle weakness in nemaline myopathy...
  63. ncbi request reprint 138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The Netherlands
    Carina Wallgren-Pettersson
    The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Fin 00251 Helsinki, Finland
    Neuromuscul Disord 16:54-60. 2006
  64. doi request reprint Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
    Vilma Lotta Lehtokari
    Department of Medical Genetics, The Folkhälsan Institute of Genetics, University of Helsinki, Biomedicum Helsinki, Helsinki, Finland
    Eur J Hum Genet 16:1055-61. 2008
    ..Previously, there had been five reports, only, of NM caused by mutations in TPM3. The mutation reported here is the first deletion to be identified in TPM3, and it is likely to be a founder mutation in the Turkish population...