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...

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Detalles Bibliográficos
Autores principales: McLaughlin, Heather M, Kelly, Melissa A, Hawley, Pamela P, Darras, Basil T, Funke, Birgit, Picker, Jonathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
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

Internet

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

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