Published on Thu Jul 15 2021

SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.

Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al-Shidi, Eman Al-Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W Taylor, Dilek Colak, Moeenaldeen D AlSayed, Namik Kaya

SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi-allelic homozygous missense variants.

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Abstract

SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi-allelic homozygous missense variants in the