Document Detail

Myotubular myopathy: morphological, immunohistochemical and clinical variation.
MedLine Citation:
PMID:  9631395     Owner:  NLM     Status:  MEDLINE    
Myotubular myopathy frequently presents in male infants with severe generalised muscular hypotonia and weakness associated with ventilatory insufficiency, and is diagnosed on biopsy by the presence of many fibres with central nuclei and mitochondrial aggregation. In a 6-year period, we have investigated five unrelated patients with clinical and pathological features suggesting an X-linked myotubular myopathy, including one female patient. In one male infant, a biopsy of vastus lateralis showed less than 2% centrally-nucleated fibres, while biceps brachii showed up to 15% centrally-nucleated fibres. Immunohistochemical expression of the neural cell adhesion molecule (CD56) was more intense in the biceps muscle than in vastus lateralis, while expression of desmin and vimentin was similar. Morphometric evaluation of tissue from each of the patients revealed a wide spread of values for the number of centrally-nucleated fibres per microscopic field, and variation in the extent of immunohistochemical expression of NCAM, utrophin, laminin alpha 5 chain, vimentin and HLA1 antigen. These variations in the manifestations of myotubular myopathy have not been previously described, and will need to be correlated with the increasing knowledge of the mutations in the MTM1 gene coding for myotubularin.
T R Helliwell; I H Ellis; R E Appleton
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  8     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  1998 May 
Date Detail:
Created Date:  1998-08-28     Completed Date:  1998-08-28     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  152-61     Citation Subset:  IM    
Department of Pathology, University of Liverpool, UK.
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MeSH Terms
Cytoskeletal Proteins / metabolism
Infant, Newborn
Intermediate Filament Proteins / metabolism
Laminin / metabolism
Membrane Proteins / metabolism
Microscopy, Electron
Muscle, Skeletal / metabolism,  pathology
Muscular Diseases / genetics,  metabolism*,  pathology*
Neural Cell Adhesion Molecules / metabolism
Tissue Distribution
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/Intermediate Filament Proteins; 0/Laminin; 0/Membrane Proteins; 0/Neural Cell Adhesion Molecules; 0/Utrophin; 0/laminin alpha5

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