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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Detalles Bibliográficos
Autores principales: Chen, Jia, Xiao, Junfang, Chen, Ge, Xu, Qiang, Wu, Xingwu, Tian, Lifeng, Huang, Zhihui, Xin, Cailin, Zhao, Yan, Guo, Zhen, Zou, Yang, Wu, Qiongfang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712729/
https://www.ncbi.nlm.nih.gov/pubmed/36468072
http://dx.doi.org/10.3389/fneur.2022.988519

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712729/
https://www.ncbi.nlm.nih.gov/pubmed/36468072
http://dx.doi.org/10.3389/fneur.2022.988519

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