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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Detalles Bibliográficos
Autores principales: Liu, Liqun, Su, Ruiting, Huang, Peng, Li, Xingfang, Xiong, Jie, Xiao, Yangyang, Mao, Dingan, Liu, Lingjuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402982/
https://www.ncbi.nlm.nih.gov/pubmed/36035138
http://dx.doi.org/10.3389/fgene.2022.947886

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402982/
https://www.ncbi.nlm.nih.gov/pubmed/36035138
http://dx.doi.org/10.3389/fgene.2022.947886

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