Document Detail


Desmin-related neuromuscular disorders.
MedLine Citation:
PMID:  7565929     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Desmin, the intermediate filament protein of skeletal muscle fibers, cardiac myocytes, and certain smooth muscle cells, is a member of the cytoskeleton linking Z-bands with the plasmalemma and the nucleus. The pathology of desmin in human neuromuscular disorders is always marked by increased amounts, diffusely or focally. Desmin is highly expressed in immature muscle fibers, both during fetal life and regeneration as well as in certain congenital myopathies, together with vimentin. Desmin is also enriched in neonatal myotonic dystrophy and small fibers in infantile spinal muscular atrophy. Focal accretion of desmin may be twofold, in conjunction with certain inclusion bodies, cytoplasmic and spheroid bodies, and in a more patchy fashion, granulofilamentous material. Both lesions have been found in certain families, affected by a myopathy and/or cardiomyopathy. Other proteins, e.g., dystrophin, vimentin, actin, ubiquitin, and alpha-B crystallin, may also be overexpressed. Desmin pathology may be genetically regulated or may merely reflect profoundly impaired metabolism of several proteins within myofibers.
Authors:
H H Goebel
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Muscle & nerve     Volume:  18     ISSN:  0148-639X     ISO Abbreviation:  Muscle Nerve     Publication Date:  1995 Nov 
Date Detail:
Created Date:  1995-11-09     Completed Date:  1995-11-09     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1306-20     Citation Subset:  IM    
Affiliation:
Division of Neuropathology, Mainz University Medical Center, Germany.
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MeSH Terms
Descriptor/Qualifier:
Desmin / physiology*
Humans
Inclusion Bodies / metabolism
Intermediate Filaments / physiology
Muscle Proteins / metabolism
Muscle, Skeletal / physiopathology
Muscular Diseases / genetics,  physiopathology
Neuromuscular Diseases / physiopathology*
Chemical
Reg. No./Substance:
0/Desmin; 0/Muscle Proteins

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


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