Document Detail

Early fatal nemaline myopathy: case report and review.
MedLine Citation:
PMID:  2826279     Owner:  NLM     Status:  MEDLINE    
A newborn girl with atonia and arthrogryposis multiplex required mechanical ventilation; she died on the 14th day. Postmortem muscle histology disclosed nemaline myopathy with a lack of myofibrils. Peripheral nerves appeared to be normal. The parents are first cousins. The findings for 13 other patients who died from nemaline myopathy within the first year of life are reviewed. It is suggested that early fatal cases, in contrast to patients with the 'benign' childhood form, are homozygotic for the disease gene, and that the myopathy results from abnormal myosin synthesis.
H Schmalbruch; Z Kamieniecka; M Arrøe
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  29     ISSN:  0012-1622     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  1987 Dec 
Date Detail:
Created Date:  1988-02-20     Completed Date:  1988-02-20     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  800-4     Citation Subset:  IM    
Institute of Neurophysiology, Panum Institute, Copenhagen, Denmark.
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MeSH Terms
Inclusion Bodies / ultrastructure*
Infant, Newborn
Muscles / pathology
Muscular Atrophy, Spinal / pathology*
Myofibrils / pathology
Spinal Muscular Atrophies of Childhood / genetics,  pathology*

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