Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations

Two young males with limb-girdle muscular dystrophy (LGMD) resulting from sarcoglycan deficiency died at 27 (patient 1) and 18 years (patient 2) of severe cardiomyopathy. Genetic analysis showed that they were compound heterozygotes for mutations in the β sarcoglycan gene. One of these mutations, an...

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Detalhes bibliográficos
Main Authors: Barresi, R., Di, B, Negri, T., Brugnoni, R., Vitali, A., Felisari, G., Salandi, A., Daniel, S., Cornelio, F., Morandi, L., Mora, M.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734518/
https://ncbi.nlm.nih.gov/pubmed/10662809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.2.102
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