| LGMD2E patients risk developing dilated cardiomyopathy. | |
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MedLine Citation:
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PMID: 12868499 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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M Fanin; P Melacini; C Boito; E Pegoraro; C Angelini |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Neuromuscular disorders : NMD Volume: 13 ISSN: 0960-8966 ISO Abbreviation: Neuromuscul. Disord. Publication Date: 2003 May |
Date Detail:
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Created Date: 2003-07-18 Completed Date: 2003-08-19 Revised Date: 2012-04-16 |
Medline Journal Info:
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Nlm Unique ID: 9111470 Medline TA: Neuromuscul Disord Country: England |
Other Details:
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Languages: eng Pagination: 303-9 Citation Subset: IM |
Affiliation:
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Department of Neurological and Psychiatric Sciences, University of Padova, via Giustiniani 5, 35128 Padova, Italy. marina.fanin@unipd.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Biopsy Blotting, Western Cardiomyopathy, Dilated / etiology*, metabolism Child Cytoskeletal Proteins / genetics, metabolism* Dystroglycans Female Humans Immunohistochemistry Male Membrane Glycoproteins / genetics, metabolism* Muscle, Skeletal / metabolism* Muscular Dystrophies / complications*, metabolism Mutation Reverse Transcriptase Polymerase Chain Reaction Risk Factors Severity of Illness Index |
| Grant Support | |
ID/Acronym/Agency:
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1114//Telethon; C.31//Telethon |
| Chemical | |
Reg. No./Substance:
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0/Cytoskeletal Proteins; 0/DAG1 protein, human; 0/Membrane Glycoproteins; 146888-27-9/Dystroglycans |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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