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Neuropediatrics 1994; 25(3): 158-161
DOI: 10.1055/s-2008-1073015
DOI: 10.1055/s-2008-1073015
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© Georg Thieme Verlag KG Stuttgart · New York
Neonatal Centronuclear Myopathy with N-Cam Decorated Myotubes
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Publikationsverlauf
Publikationsdatum:
19. März 2008 (online)
Abstract
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.
Key words
N-CAM decorated myotubes - Failure in muscle maturation