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...

Full description

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

Internet

https://nmb.abvpress.ru/jour/article/view/424

Similar Items