Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia

Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia

Misato mitochondrial distribution and morphology regulator 1 (MSTO1) is a nuclear-encoded cytoplasmic protein involved in mitochondrial fusion and distribution. Its disruption causes an extremely rare mitochondrial disorder characterized by early-onset myopathy and cerebellar ataxia. The genotype-ph...

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Bibliographic Details
Main Authors: Jia Chen, Junfang Xiao, Ge Chen, Qiang Xu, Xingwu Wu, Lifeng Tian, Zhihui Huang, Cailin Xin, Yan Zhao, Zhen Guo, Yang Zou, Qiongfang Wu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Neurology
Subjects:
MSTO1
myopathy and ataxia
mitochondrial disorders
whole exome sequencing
missense variant
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.988519/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2022.988519/full

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