COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Michio InoueShumpei UchinoAritoshi IidaSatoru NoguchiShinichiro HayashiTsutomu TakahashiKatsunori FujiiHirofumi KomakiEri TakeshitaIkuya NonakaYukinori OkadaTakuya YoshizawaLeentje Van LommelFrans SchuitYu-Ichi GotoMasakazu MimakiIchizo Nishino

Published in: Annals of neurology (2019)

This study indicates that biallelic variants in COX6A2 cause a striated muscle-specific form of COX deficiency. ANN NEUROL 2019;86:193-202.

Keyphrases

copy number
skeletal muscle
replacement therapy
autism spectrum disorder