Associated Papers
Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.
Mao B et al.
Bmc Musculoskeletal Disorders, 2025
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
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
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
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.
Iwama K et al.
Journal of Human Genetics, 2018
Select a paper to view details