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| Ataxia v2.125 | MTO1 |
Sangavi Sivagnanasundram gene: MTO1 was added gene: MTO1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTO1 were set to 29331171 Phenotypes for gene: MTO1 were set to Mitochondrial disease, MONDO:0044970 Review for gene: MTO1 was set to GREEN Added comment: PMID 29331171 reports 7 individuals from 7 families with biallelic MTO1 variants presenting with ataxia, lactic acidosis, developmental delay/intellectual disability, cardiomyopathy and combined oxidative phosphorylation deficiency. The condition is a mitochondrial disorder, and ataxia is a core neurological manifestation. Sources: Literature |
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