Associated Papers
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
An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.
Chui MM et al.
Npj Genomic Medicine, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
41170324 (PubMed )
Supplement: Data_Sheet_3.XLS › NDD-NPDs
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2
[Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene].
Tian Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
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
Evidence of motor axon or motor neuron damage in a Chinese patient with compound heterozygous MSTO1 variants.
Jiao Y et al.
Acta Neurologica Belgica, 2021
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
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Nasca A et al.
Human Mutation, 2017
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