Rare Disease Library

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Benign COX deficiency · Infantile reversible cytochrome C oxidase deficiency myopathy

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset CPEO with mitochondrial myopathy

Leigh syndrome with cardiomyopathy

Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency · Cardiomyopathy with myopathy due to COX deficiency

Mitochondrial disease with dilated cardiomyopathy

Mitochondrial disease with hypertrophic cardiomyopathy

Mitochondrial DNA-related mitochondrial myopathy

mtDNA-related mitochondrial myopathy · Maternally-inherited mitochondrial myopathy

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

COXPD10 · Combined oxidative phosphorylation defect type 10

Mitochondrial myopathy

Mitochondrial pyruvate carrier deficiency

Proximal myopathy with focal depletion of mitochondria

Pure mitochondrial myopathy

Severe X-linked mitochondrial encephalomyopathy

Mitochondrial encephalomyopathy due to COXPD6 · Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6

TMEM70-related mitochondrial encephalo-cardio-myopathy

Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency