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Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement

BACKGROUND: Congenital muscular dystrophies (CMDs) are a genetically and clinically heterogeneous group of neuromuscular disorders. Several genes encoding extracellular matrix, nuclear envelope, sarcolemmal proteins and glycosylation enzymes have been implicated in CMDs. The large overlap of clinica...

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Detalles Bibliográficos
Autores principales:	Ceyhan-Birsoy, Ozge, Talim, Beril, Swanson, Lindsay C., Karakaya, Mert, Graff, Michelle A., Beggs, Alan H., Topaloglu, Haluk
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4373448/ https://www.ncbi.nlm.nih.gov/pubmed/25821721 http://dx.doi.org/10.3233/JND-140038

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