Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
Cristiane BenincáVanessa ZanetteMichele BrischigliaroMark JohnsonAurelio ReyesDaniel Almeida do ValleAlan J RobinsonAndrea DegiorgiAnna YeatesBruno Augusto TellesJulien PrudentEnrico BaruffiniMara Lucia S F SantosRicardo Lehtonen R de SouzaErika Fernandez-VizarraAlexander J WhitworthMassimo ZevianiPublished in: Journal of medical genetics (2020)
This is the first case of pathogenic mutation in APOO, causing altered MICOS assembly and neuromuscular impairment. MIC26 is involved in the assembly or stability of MICOS in humans, yeast and flies.