Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants

Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants

Misato Mitochondrial Distribution and Morphology Regulator 1 (MSTO1) is a soluble cytoplasmic protein that regulates mitochondrial dynamics by promoting mitochondrial fusion. Variants in the MSTO1 gene cause a rare disease characterized by early-onset myopathy and cerebellar ataxia, with almost 30 c...

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Bibliographic Details
Main Authors: Liqun Liu, Ruiting Su, Peng Huang, Xingfang Li, Jie Xiong, Yangyang Xiao, Dingan Mao, Lingjuan Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
MSTO1
compound heterozygous variants
myasthenia
cerebellar atrophy
mitochondria
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.947886/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.947886/full

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