The genotypic and phenotypic spectrum of MTO1 deficiency.

ABSTRACT:

Background

Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10).

Material and methods

Thirty five cases of MTO1 deficiency were identified and reviewed through international collaboration. The cases of two female siblings, who presented at 1 and 2years of life with seizures, global developme

SUBMITTER: O'Byrne JJ 

PROVIDER: S-EPMC5780301 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature