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Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy
BACKGROUND: Variants in the emerin gene (EMD) were implicated in X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD), characterized by early-onset contractures of tendons, progressive muscular weakness and cardiomyopathy. To date, 223 mutations have been reported in EMD gene and the majority...
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| Główni autorzy: | , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2014
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4105140/ https://ncbi.nlm.nih.gov/pubmed/24997722 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-77 |
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