A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease

Mutations in VCP have been reported to account for a spectrum of phenotypes that include inclusion body myopathy with Paget’s disease of the bone and frontotemporal dementia, hereditary spastic paraplegia, and 1–2% of familial amyotrophic lateral sclerosis. We identified a novel VCP mutation (p.Glu1...

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Главные авторы: Gonzalez, Michael A., Feely, Shawna M., Speziani, Fiorella, Strickland, Alleene V., Danzi, Matt, Bacon, Chelsea, Lee, Youjin, Chou, Tsui-Fen, Blanton, Susan H., Weihl, Conrad C., Zuchner, Stephan, Shy, Michael E.
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2014
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Reports
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4208462/
https://ncbi.nlm.nih.gov/pubmed/25125609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu224
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