Document Detail

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.
MedLine Citation:
PMID:  3285207     Owner:  NLM     Status:  MEDLINE    
A deficiency of the protein dystrophin has recently been shown to be the probable cause of Duchenne's muscular dystrophy. We sought to determine the relation between the clinical phenotype and the status of dystrophin in muscle-biopsy specimens from 103 patients with various neuromuscular disorders. We found very low levels (less than 3 percent of normal levels) or no dystrophin in the severe Duchenne phenotype (35 of 38 patients), low concentrations of dystrophin in the intermediate (outlier) phenotype (4 of 7), and dystrophin of abnormal molecular weight in the mild Becker phenotype (12 of 18). Normal levels of dystrophin of normal molecular weight were found in nearly all the patients (38 of 40) with 20 other neuromuscular disorders we studied. These data show the clinical consequences of both quantitative alterations (in Duchenne's and intermediate dystrophy) in a single protein. The biochemical assay for dystrophin should prove helpful in delineating myopathies that overlap clinically with Duchenne's and Becker's dystrophies, and it shows promise as an accurate diagnostic tool.
E P Hoffman; K H Fischbeck; R H Brown; M Johnson; R Medori; J D Loike; J B Harris; R Waterston; M Brooke; L Specht
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The New England journal of medicine     Volume:  318     ISSN:  0028-4793     ISO Abbreviation:  N. Engl. J. Med.     Publication Date:  1988 May 
Date Detail:
Created Date:  1988-06-15     Completed Date:  1988-06-15     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0255562     Medline TA:  N Engl J Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1363-8     Citation Subset:  AIM; IM    
Division of Genetics, Children's Hospital, Boston, MA.
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MeSH Terms
Child, Preschool
Diagnosis, Differential
Molecular Weight
Muscle Proteins / deficiency,  isolation & purification*
Muscles / analysis*
Muscular Dystrophies / diagnosis,  metabolism*
Reg. No./Substance:
0/Dystrophin; 0/Muscle Proteins

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

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