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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneVCP
Other namesp97; TERA; IBMPFD; MGC8560; MGC131997; MGC148092; VCP
Gene namevalosin-containing protein
Gene inheritance categoryFALS genes
Category 
Chromosome9p13
Genomic CoordinatesChr9:35056065-35072739 ( -)
BackgroundMutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia
ResultScreening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS
Total Mutations7
Total Affected9
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
9020180489

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KEY PUBLICATIONS (2)

First_AuthorYearTitlePaper
Johnson2010Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALSFull_Paper
Miller2012Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patientsFull_Paper
 
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