Document Detail

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
MedLine Citation:
PMID:  11166164     Owner:  NLM     Status:  MEDLINE    
Nemaline myopathy is a clinically and genetically heterogeneous condition. The clinical spectrum ranges from severe cases with antenatal or neonatal onset and early death to late onset cases with only slow progression. Three genes are known to cause nemaline myopathy: the genes for nebulin (NEB) on chromosome 2q22, slow alpha-tropomyosin (TPM3) on chromosome 1q21 and skeletal muscle alpha-actin (ACTA1) on chromosome 1q42. We present a 39-year-old lady with a mild form of nemaline myopathy, whom we have followed over a period of 25 years. She presented at the age of 7 years with symptoms of mild axial and proximal muscle weakness. The overall course was essentially static, but at 36 years, she went into life-threatening respiratory failure, for which she is currently treated with night-time ventilation. Muscle biopsies at 12, 17 and 39 years of age showed typical nemaline rods, particularly in type 1 fibres. Areas with unevenness of oxidative stain were present in the second and third biopsies. The presence of rods and core-like areas was confirmed on electron microscopy. There was no detectable alteration in actin expression immunocytochemically. A dominant missense mutation in the skeletal muscle alpha-actin gene (ACTA1) was found. This case illustrates the clinical and genetic heterogeneity of nemaline myopathy, and one phenotype of the wide spectrum of severity caused by mutations in the skeletal muscle alpha-actin (ACTA1) gene. In addition, it shows the diversity of pathological features that can occur in congenital myopathies due to mutations in the same gene.
H Jungbluth; C A Sewry; S C Brown; K J Nowak; N G Laing; C Wallgren-Pettersson; K Pelin; A Y Manzur; E Mercuri; V Dubowitz; F Muntoni
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  11     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2001 Jan 
Date Detail:
Created Date:  2001-02-22     Completed Date:  2001-05-03     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  35-40     Citation Subset:  IM    
Department of Paediatrics and Neonatal Medicine, Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, W12 0NN, London, UK.
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MeSH Terms
Actins / genetics*,  metabolism
Cardiovascular Physiological Phenomena
Chromosomes, Human, Pair 1 / genetics*
Creatine Kinase / analysis
DNA Mutational Analysis
Magnetic Resonance Imaging
Microscopy, Electron
Muscle, Skeletal / pathology*,  ultrasonography,  ultrastructure
Mutation, Missense / genetics*
Myopathies, Nemaline / complications*,  genetics*,  physiopathology
Sleep Apnea Syndromes / genetics*,  physiopathology
Reg. No./Substance:
0/Actins; EC Kinase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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