Rare Disease Library

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset CPEO with mitochondrial myopathy

Adult-onset nemaline myopathy

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Distal myopathy with anterior tibial onset

Distal anterior compartment myopathy

DNA2-related mitochondrial DNA deletion syndrome

Mitochondrial DNA deletion syndrome with limb-girdle weakness · mtDNA deletion syndrome with limb-girdle weakness

Early-onset myopathy with fatal cardiomyopathy

EOMFC · Salih myopathy

Lethal infantile mitochondrial myopathy

LIMM · LIMD

Mitochondrial disease with dilated cardiomyopathy

Mitochondrial disease with hypertrophic cardiomyopathy

Mitochondrial disease with peripheral neuropathy

Mitochondrial DNA-related mitochondrial myopathy

mtDNA-related mitochondrial myopathy · Maternally-inherited mitochondrial myopathy

Mitochondrial myopathy

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Benign COX deficiency · Infantile reversible cytochrome C oxidase deficiency myopathy

Proximal myopathy with focal depletion of mitochondria

Pure mitochondrial myopathy