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SLC25A42‐associated Mitochondrial Encephalomyopathy: Report of Additional Founder Cases and Functional Characterization of a Novel Deletion

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

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

Cited 10|Views17
Key words
ATP production,deep brain stimulation,mitochondrial oxygen consumption,SLC25A42,truncation
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