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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...
Tallennettuna:
| Päätekijät: | , , , , , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Group
2000
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| Aiheet: | |
| Linkit: | 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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