Associated Papers
MSTO1-related mitochondrial myopathy and ataxia syndrome: Case series and literature review.
Sharma R et al.
Neuromuscular Disorders : Nmd, 2026
Seventeen-year follow-up of mitochondrial myopathy and ataxia in a Chinese family: case reports and literature review.
Liu Y et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2025
Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia.
Chen J et al.
Frontiers in Neurology, 2022
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.
Nasca A et al.
Journal of Human Genetics, 2021
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.
Li K et al.
European Journal of Medical Genetics, 2020
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S et al.
Acta Neuropathologica, 2019
Novel biallelic variants in MSTO1 associated with mitochondrial myopathy.
Schultz-Rogers L et al.
Cold Spring Harbor Molecular Case Studies, 2019
A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.
Ardicli D et al.
Neuromuscular Disorders : Nmd, 2019
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.
Iwama K et al.
Journal of Human Genetics, 2018
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