Article
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Brain : a journal of neurology - 1 Nov 2014
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
Abstract excerpt
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.Glu185Lys) segregating in an autosomal dominant Charcot-Marie-Tooth disease type 2 family. Functional studies showed...
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