Mutation in the MICOS subunit gene <i>APOO</i> (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

Abstract

This is the first case of pathogenic mutation in <i>APOO</i>, causing altered MICOS assembly and neuromuscular impairment. MIC26 is involved in the assembly or stability of MICOS in humans, yeast and flies.