Document Detail


Myoadenylate deaminase deficiency: a new disease of muscle.
MedLine Citation:
PMID:  644316     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Five cases of a new disease presented with muscular weakness or cramping after exercise; three of the cases also had an elevated serum creatine phosphokinase. Muscle biopsies were histologically normal but lacked adenylate deaminase by stain and solution assay, while the erythrocyte isozyme was normal. A clinical diagnostic test has been developed, and the human enzyme was separated by acrylamide-gel electrophoresis.
Authors:
W N Fishbein; V W Armbrustmacher; J L Griffin
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Science (New York, N.Y.)     Volume:  200     ISSN:  0036-8075     ISO Abbreviation:  Science     Publication Date:  1978 May 
Date Detail:
Created Date:  1978-06-12     Completed Date:  1978-06-12     Revised Date:  2007-03-19    
Medline Journal Info:
Nlm Unique ID:  0404511     Medline TA:  Science     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  545-8     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
AMP Deaminase / blood,  deficiency*
Adenine Nucleotides / metabolism
Adenosine Deaminase / blood
Adolescent
Adult
Child
Creatine Kinase / metabolism
Female
Humans
Male
Muscles / enzymology
Muscular Diseases / enzymology*
Nucleotide Deaminases / deficiency*
Chemical
Reg. No./Substance:
0/Adenine Nucleotides; EC 2.7.3.2/Creatine Kinase; EC 3.5.4.-/Nucleotide Deaminases; EC 3.5.4.4/Adenosine Deaminase; EC 3.5.4.6/AMP Deaminase

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


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