Article
Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.
Clinical genetics - 1 Jan 2018
Al-Obeidi E, Al-Tahan S, Surampalli A, Goyal N, Wang A K, Hermann A, Omizo M, Smith C, Mozaffar T, Kimonis V
Abstract excerpt
Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic differences in this disorder could be explained by the specific gene mutations. We therefore studied 231 individuals (118 males and 113 females) from 36 families carrying...
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