Infantile myopathy and lactic acidosis

Overview

Infantile myopathies are associated with severe cytochrome c oxidase (COX) deficiency. These are transmitted as autosomal recessive traits, but the affected genes remain unknown.

Source: Salvatore Di Mauro et al., Mitochondrial Myopathies, Basic Appl Myol 13 (3): 145-155, 2003