Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes

Simon, MT; Eftekharian, SS; Stover, AE; Osborne, AF; Braffman, BH; Chang, RC; Wang, RY; Steenari, MR; Tang, S; Hwu, PWL; Taft, RJ; Benke, PJ; Abdenur, JE

Abdenur, JE (reprint author), CHOC Childrens Hosp, Div Metab Disorders, Orange, CA 92868 USA.

MOLECULAR GENETICS AND METABOLISM, 2019; 126 (1): 53

Abstract

Primary mitochondrial complex I deficiency is the most common defect of the mitochondrial respiratory chain. It is caused by defects in structural com......

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