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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Hlavní autoři: Barresi, R., Di, B, Negri, T., Brugnoni, R., Vitali, A., Felisari, G., Salandi, A., Daniel, S., Cornelio, F., Morandi, L., Mora, M.
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2000
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Original Articles
On-line přístup: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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