combined oxidative phosphorylation deficiency type 3

(redirected from concentric cardiomyopathy, hypotonia, and lactic acidosis)

combined oxidative phosphorylation deficiency type 3

An extremely rare autosomal recessive multisystem disorder (MIM:610505) caused by defects in the mitochondrial oxidative phosphorylation due to protein mistranslation, leading to a failure to assemble adequate amounts of three oxidative phosphorylation complexes.

Molecular pathology
Defects of TSFM, which encodes a mitochondrial translation elongation factor, cause combined oxidative phosphorylation deficiency 3.