Document Detail


A new congenital neuromuscular disease with trilaminar muscle fibers.
MedLine Citation:
PMID:  564483     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
An infant was born with marked rigidity, a paucity of spontaneous movements, and increased serum creatine phosphokinase activity. Electromyogram was normal. A muscle biopsy, taken at the age of 7 weeks, contained numerous fibers composed of three concentric zones, warranting the designation "trilaminar fibers." Electronmicroscopy showed the innermost zone contained a densely packed collection of mitochondria, glycogen, electron opaque material, and single filaments. The middle zone consisted of myofibrils with Z-band smearing. The outer zone resembled a sarcoplasmic mass. Extrajunctional acetylcholine receptor (AChR) was present in the trilaminar fibers between the middle and outer zones. The increased muscle tone and extrajunctional AChR suggest and altered neural influence, but the markedly increased creatine phosphokinase activity is more characteristic of muscle damage. Precise definition of the nature of the defect awaits further study.
Authors:
S P Ringel; H E Neville; M C Duster; J E Carroll
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neurology     Volume:  28     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1978 Mar 
Date Detail:
Created Date:  1978-04-26     Completed Date:  1978-04-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  282-9     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Female
Humans
Infant, Newborn
Muscles / analysis,  ultrastructure*
Neuromuscular Diseases / congenital*,  pathology
Receptors, Cholinergic / analysis
Chemical
Reg. No./Substance:
0/Receptors, Cholinergic

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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