Mutations of the TUFM gene are associated with combined oxidative phosphorylation deficiency 4 (COXPD4, MIM 610678), a disease resulting in severely decreased mitochondrial protein synthesis and combined deficiency of mtDNA-encoded respiratory chain complex subunits, with neonatal onset of lactic acidosis and rapidly progressive encephalopathy. This evidence concerns the gene TUFM and Encephalopathy.