Mariël A M van den Brand

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Christian Gilissen, Johannes Zschocke, Radek Szklarczyk, 2013, Human molecular genetics.

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Ulrich Brandt, Sergio Guerrero-Castillo, Benoît Funalot, 2016, American journal of human genetics.