Document Detail


Dystrophinopathies: clarification and complication.
MedLine Citation:
PMID:  8745379     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The purpose of this review is to analyze the clinical applications of a remarkable series of advances made in molecular genetics, primarily with regard to Becker muscular dystrophy. A new classification is required to clarify such syndromes as Duchenne and Becker muscular dystrophy. Dystrophinopathies can be seen in patients with early onset and a severe course (Duchenne muscular dystrophy), patients with later onset and milder weakness (Becker muscular dystrophy), patients with myalgia and cramp syndrome, and patients with dilated cardiomyopathies. Dystrophin testing in muscle is the most sensitive test for identification of dystrophinopathy patients, although gene deletion studies can make the diagnosis in most cases.
Authors:
F J Samaha; J G Quinlan
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of child neurology     Volume:  11     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  1996 Jan 
Date Detail:
Created Date:  1996-10-04     Completed Date:  1996-10-04     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  13-20     Citation Subset:  IM    
Affiliation:
Department of Neurology, University of Cincinnati Medical Center, OH 45267, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Age of Onset
Chromosomes, Human, Pair 21
Dystrophin / analysis
Electromyography
Female
Gene Deletion
Humans
Male
Muscle, Skeletal / chemistry
Muscular Dystrophies / complications*,  diagnosis*
Sex Factors
X Chromosome
Chemical
Reg. No./Substance:
0/Dystrophin

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


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