A fatal case of <i>COQ7</i>‐associated primary coenzyme Q₁₀ deficiency

Abstract

This third patient presenting with lethal encephalo-myo-nephro-cardiopathy represents the severe end of this ultra-rare mitochondrial disease caused by biallelic <i>COQ7</i> mutations. The response to CoQ₁₀ supplement is poor and alternative treatment strategies should be developed for a more effective management of this disorder.