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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Detalhes bibliográficos
Publicado no:J Neuromuscul Dis
Main Authors: Ceyhan-Birsoy, Ozge, Talim, Beril, Swanson, Lindsay C., Karakaya, Mert, Graff, Michelle A., Beggs, Alan H., Topaloglu, Haluk
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4373448/
https://ncbi.nlm.nih.gov/pubmed/25821721
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-140038
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