Associated Papers
The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ et al.
Molecular Genetics and Metabolism, 2018
The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.
Martín MÁ et al.
Clinical Genetics, 2017
Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.
Bartsakoulia M et al.
Journal of Neuromuscular Diseases, 2016
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
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