Diversity of <i>VCP</i>-related phenotypes: case report and literature review

Diversity of <i>VCP</i>-related phenotypes: case report and literature review

Background. Gene VCP encoding multifunctional protein valosin produces a number of rare autosomal dominant late-onset disorders with multiple symptoms (muscular dystrophy with inclusion bodies in part of cases, Paget disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis and few oth...

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Bibliographic Details
Main Authors: G. E. Rudenskaya, O. L. Mironovich, A. F. Murtazina, O. A. Shchagina
Format: Article
Language:Russian
Published: ABV-press 2021-04-01
Series:Nervno-Myšečnye Bolezni
Subjects:
gene <i>vcp</i>
exome sequencing
common mutation
intrаfamilial variability
muscular dystrophy
paget disease
amyotrophic lateral sclerosis
Online Access:https://nmb.abvpress.ru/jour/article/view/424

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