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LGMD2E patients risk developing dilated cardiomyopathy.
Fanin, M; Melacini, P; Boito, C; Pegoraro, E; Angelini, C.
Afiliação
  • Fanin M; Department of Neurological and Psychiatric Sciences, University of Padova, via Giustiniani 5, 35128 Padova, Italy. marina.fanin@unipd.it
Neuromuscul Disord ; 13(4): 303-9, 2003 May.
Article em En | MEDLINE | ID: mdl-12868499
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.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Cardiomiopatia Dilatada / Músculo Esquelético / Proteínas do Citoesqueleto / Distrofias Musculares Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2003 Tipo de documento: Article
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Cardiomiopatia Dilatada / Músculo Esquelético / Proteínas do Citoesqueleto / Distrofias Musculares Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2003 Tipo de documento: Article