Document Detail

Congenital myopathy with ringlike distribution of myonuclei and mitochondria and accumulation of nemaline rods. A variant of centronuclear myopathy?
MedLine Citation:
PMID:  7546014     Owner:  NLM     Status:  MEDLINE    
Histopathologic and ultrastructural findings in a muscle biopsy performed on an 11-year old boy with congenital hypotonia, weakness, respiratory insufficiency requiring chronic ventilatory support, and a probable X-linked inheritance are presented. The muscle biopsy disclosed a peculiar, ringlike arrangement of mitochondria and myonuclei in most muscle fibers. Accumulations of nemaline rods were present in approximately 10-15% of fibers. We believe that our patient represents a variant of myotubular/centronuclear myopathy. The histochemical findings suggest disturbance in developmental migration of nuclei and mitochondria probably due to impaired function of the cytoskeleton.
A J Waclawik; T S Edgar; B P Lotz; P Lewandoski; R S Rust
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  12     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  1995 May 
Date Detail:
Created Date:  1995-11-13     Completed Date:  1995-11-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  370-3     Citation Subset:  IM    
Department of Neurology, University of Wisconsin Medical School, Madison, USA.
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MeSH Terms
Cell Nucleus / pathology*
Mitochondrial Myopathies / congenital*,  pathology
Myopathies, Nemaline / pathology*

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