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Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
BACKGROUND: Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy. To date, only ~50 disease-associated variants have been described, and the majority of these lead to dominant...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2013
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3711885/ https://www.ncbi.nlm.nih.gov/pubmed/23815709 http://dx.doi.org/10.1186/1471-2350-14-68 |