Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII

Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII

Neuronopathy, distal hereditary motor, type VIII is an exceedingly rare autosomal dominant genetic disorder, also known as congenital non-progressive distal spinal muscular atrophy. It is characterized by progressive weakness in distal motor function and atrophy of muscles, without accompanying sens...

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Bibliographic Details
Main Authors: Fengge Wang, Xuemei Jin, Yongning Zhu, Shuli Jiang, Xiaoyan Zhang, Yanping Wang, Dongmei Man, Fuling Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Pediatrics
Subjects:
neuronopathy
distal hereditary motor
type VIII
TRPV4
gene mutation
c.805C>T
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1327742/full

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