Document Detail

LGMD2E patients risk developing dilated cardiomyopathy.
MedLine Citation:
PMID:  12868499     Owner:  NLM     Status:  MEDLINE    
Sarcoglycan gene mutations cause various limb-girdle muscular dystrophies. The sarcoglycans are expressed both in skeletal and cardiac muscle but, surprisingly, so far only a few sarcoglycanopathy patients have had documented cardiomyopathy. We studied six patients with beta-sarcoglycanopathy. Immunohistochemical and immunoblot analysis performed on skeletal muscle biopsies from five patients, showed the loss of all sarcoglycans in three cases and marked reduction in two patients. Non-invasive cardiac examinations revealed that three patients had cardiac involvement: one had a severe Duchenne-like dystrophy, lethal dilated cardiomyopathy, and shared the same mutation reported in another cardiomyopathic patient; the other two patients had limb-girdle dystrophy and moderate cardiac involvement (one of them has a novel gene mutation). Given the age profile of the patients studied, the 50% cardiac involvement found in our LGMD2E patients is likely to be a conservative estimate. Careful cardiac monitoring should be carried out in beta-sarcoglycanopathy patients who are at high risk of developing cardiomyopathy.
M Fanin; P Melacini; C Boito; E Pegoraro; C Angelini
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  13     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2003 May 
Date Detail:
Created Date:  2003-07-18     Completed Date:  2003-08-19     Revised Date:  2012-04-16    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  303-9     Citation Subset:  IM    
Department of Neurological and Psychiatric Sciences, University of Padova, via Giustiniani 5, 35128 Padova, Italy.
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MeSH Terms
Blotting, Western
Cardiomyopathy, Dilated / etiology*,  metabolism
Cytoskeletal Proteins / genetics,  metabolism*
Membrane Glycoproteins / genetics,  metabolism*
Muscle, Skeletal / metabolism*
Muscular Dystrophies / complications*,  metabolism
Reverse Transcriptase Polymerase Chain Reaction
Risk Factors
Severity of Illness Index
Grant Support
1114//Telethon; C.31//Telethon
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/DAG1 protein, human; 0/Membrane Glycoproteins; 146888-27-9/Dystroglycans

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