| Myoadenylate deaminase deficiency: a new disease of muscle. | |
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MedLine Citation:
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PMID: 644316 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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W N Fishbein; V W Armbrustmacher; J L Griffin |
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Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Science (New York, N.Y.) Volume: 200 ISSN: 0036-8075 ISO Abbreviation: Science Publication Date: 1978 May |
Date Detail:
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Created Date: 1978-06-12 Completed Date: 1978-06-12 Revised Date: 2007-03-19 |
Medline Journal Info:
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Nlm Unique ID: 0404511 Medline TA: Science Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 545-8 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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:
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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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