Neonatal centronuclear myopathy with N-CAM decorated myotubes.
Muscle specimens from two baby males with fatal X-linked recessive (XLR) form of central nuclear myopathy (CNM) were studied by immunochemistry using cell surface molecules (N-CAM) and by electron microscopy. In both neonates muscle fibres with morphology of myotubes strongly expressed N-CAM. The expression of N-CAM in non regenerating postnatal human muscle suggests that neonatal X-linked fatal form of CNM is characterized by arrest or delay of maturation of muscle fibres.
Department of Neurology, Medical School, Polish Academy of Sciences, Warsaw.
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Fidziańska
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Warlo
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HH
Goebel
D000906:Antibodies; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins; D008854:Microscopy, Electron; D018485:Muscle Fibers, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D009124:Muscle Proteins; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*; D014960:X Chromosome
D000906:Antibodies; D008565:Membrane Proteins; D009124:Muscle Proteins