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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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| Опубликовано в: : | J Neuromuscul Dis |
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| Главные авторы: | , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2015
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| Предметы: | |
| Online-ссылка: | 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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