PMID: 9545182Apr 17, 1998Paper

Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: a case report

Brain & Development
Y ItakuraI Nonaka

Abstract

A Japanese boy had marked generalized hypotonia and weakness and progressive respiratory failure since birth. Left biceps brachii muscle biopsy at 47 days of age showed marked variation in muscle fiber size, and nemaline and/or cytoplasmic bodies in approximately 10% of the muscle fibers. To our knowledge, the presence of nemaline and cytoplasmic bodies in the same muscle has not been previously reported. The severity of his respiratory failure and muscle weakness were thought to be related to muscle immaturity since there were many undifferentiated type 2C fibers.

References

Dec 1, 1967·Brain : a Journal of Neurology·S A ShafiqA T Milhorat
Mar 1, 1970·Archives of Neurology·N NakashimaH Goto
Mar 1, 1983·Neurology·P NortonJ Harb
Feb 1, 1983·Neuropediatrics·I NonakaH Sugita
Nov 1, 1993·Neurology·Z RifaiR C Griggs
Dec 1, 1963·Brain : a Journal of Neurology·G M SHYT WANKO

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Citations

Feb 5, 2003·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Kiyotaka SuwaIkuya Nonaka
May 20, 2008·Journal of Child Neurology·Shafeeq LadhaKumaraswamy Sivakumar

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