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Neuropediatrics 1994; 25(3): 158-161
DOI: 10.1055/s-2008-1073015
Short communication

© Georg Thieme Verlag KG Stuttgart · New York

Neonatal Centronuclear Myopathy with N-Cam Decorated Myotubes

A.  Fidziańska1 , I.  Warlo2 , H. H. Goebel2
  • 1Department of Neurology, Medical School and Neuromuscular Unit, Polish Academy of Sciences, Warsaw, Poland
  • 2Department of Neuropathology, Mainz University, Germany
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Publication History

Publication Date:
19 March 2008 (online)

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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

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