COX16 deficiency causes a novel mitochondrial disorder with lethal infantile presentation and complex IV deficiency

Shanti Balasubramaniam, Liesbeth T.M. Wintjes,Maina Kava,Frans A. van den Brandt,Yngve T. Bliksrud,Mari A. Kulseth,Silja S. Amundsen,Terje R. Selberg,Richard J.T. Rodenburg

Pathology（2022）

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摘要

Objective: To investigate the underlying genetic aetiology in two unrelated Caucasian patients with lethal infantile presentation of hypertrophic cardiomyopathy, encephalopathy, severe lactic acidosis, and complex IV deficiency in skeletal muscle.

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