Document Detail


Selective vacuolar myopathy with atrophy of type II fibers. Occurrence in a childhood case of acid maltase deficiency.
MedLine Citation:
PMID:  343765     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 12-year-old boy being examined for vague chest pains was found to be suffering from acid maltase deficiency. Unlike previously reported cases in which vacuolization was most commonly noted in type I fibers, type II fibers were selectively involved in this patient and were atrophic Type I fibers were spared, or occasionally contained one or more small globular structures consisting of large, complex aggregates of lysosomal profiles.
Authors:
D S Horoupian; K R Kini; L Weiss; R Follmer
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of neurology     Volume:  35     ISSN:  0003-9942     ISO Abbreviation:  Arch. Neurol.     Publication Date:  1978 Mar 
Date Detail:
Created Date:  1978-04-26     Completed Date:  1978-04-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0372436     Medline TA:  Arch Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  175-8     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Atrophy
Child
Epinephrine / therapeutic use
Glucan 1,4-alpha-Glucosidase / deficiency*
Glucosidases / deficiency*
Humans
Male
Muscles / ultrastructure*
Muscular Diseases / drug therapy,  enzymology,  pathology*
Chemical
Reg. No./Substance:
51-43-4/Epinephrine; EC 3.2.1.-/Glucosidases; EC 3.2.1.3/Glucan 1,4-alpha-Glucosidase

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


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