Document Detail


Congenital myopathies with "diagnostic" pathological features.
MedLine Citation:
PMID:  3323392     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
This addition to the classification of myopathies is a result of the improved diagnostic techniques in muscle pathology in recent years, largely through the application of electronmicroscopy and histochemistry. After summarizing the clinical picture, the authors call for classification: (1) Congenital myopathies due to developmental arrest: myotubular myopathy, congenital fiber type disproportion. (2) Congenital myopathies due to persistent organellar regression: focal loss of cross striation, myopathy with lysis of myofibrils, nemaline body myopathy, zebra body myopathy, spheroid body myopathy, myopathy with tubular aggregates, satellite cell myopathy. (3) Congenital myopathies due to metabolic errors: mitochondrial myopathy, mitochondria-lipid-glycogen disease. (4) Congenital myopathies due to the lack of the trophic influence of innervation: central core disease, multicore, minicore disease. These congenital myopathies have been taken from the ill-defined heterogeneous conglomeration known as amyotonia congenita or floppy infant syndrome and given a place of their own.
Authors:
A Korényi-Both; I Korényi-Both
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of medicine     Volume:  18     ISSN:  0025-7850     ISO Abbreviation:  J Med     Publication Date:  1987  
Date Detail:
Created Date:  1988-02-26     Completed Date:  1988-02-26     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7505566     Medline TA:  J Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  93-107     Citation Subset:  IM    
Affiliation:
Laboratory Services, 348th General Hospital, USAR, Philadelphia, PA.
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MeSH Terms
Descriptor/Qualifier:
Histocytochemistry
Humans
Microscopy, Electron
Muscular Diseases / classification*,  congenital,  pathology

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


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