Rare Disease Library

Mitochondrial DNA-related mitochondrial myopathy

mtDNA-related mitochondrial myopathy · Maternally-inherited mitochondrial myopathy

Adenylosuccinate synthetase-like 1-related distal myopathy

ADSSL1-related distal myopathy

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset CPEO with mitochondrial myopathy

DNA2-related mitochondrial DNA deletion syndrome

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

DNAJB4-related distal myopathy

DNAJB6-related distal myopathy

FASTKD2-related infantile mitochondrial encephalomyopathy

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Myopathy with exercise intolerance, Swedish type · ISCU-related myopathy

Lethal infantile mitochondrial myopathy

LIMM · LIMD

Mitochondrial disease with dilated cardiomyopathy

Mitochondrial DNA depletion syndrome, myopathic form

mtDNA depletion syndrome, myopathic form

Mitochondrial DNA-related cardiomyopathy and hearing loss

mtDNA-related cardiomyopathy and deafness · Maternally-inherited cardiomyopathy and deafness

Mitochondrial DNA-related dystonia

Maternally-inherited mitochondrial dystonia · mtDNA-related dystonia

Mitochondrial myopathy

Mitochondrial myopathy and sideroblastic anemia

MLASA · Myopathy, lactic acidosis and sideroblastic anemia

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Benign COX deficiency · Infantile reversible cytochrome C oxidase deficiency myopathy

MT-ATP6-related mitochondrial spastic paraplegia

Maternally-inherited spastic paraplegia · Maternally-inherited SPG

Native American myopathy

Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

Mitochondrial HSP60 chaperonopathy

Pure mitochondrial myopathy

Severe X-linked mitochondrial encephalomyopathy

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

SMPX-related distal myopathy

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

Vocal cord and pharyngeal distal myopathy

Distal myopathy with vocal cord weakness · VCPDM