Table 1.
Disease | Abbreviation | mtDNA/RNAa | Defect, presence of symptom, sign or finding, and other notes |
---|---|---|---|
Aminoglycoside-induced deafness | AID | Mutation in rRNA | Also associated with Parkinson's disease |
Kearns-Sayre syndrome | KSS | Large-scale deletions | Possible presence of sensorineural hearing loss |
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes | MELAS | Mutation in tRNA | |
Maternally inherited deafness and diabetes | MIDD | Mutation in RNA | Phenotypically and genotypically heterogeneous |
Mohr-Tranebjaerg syndrome | MTS | Mutations in nDNA | Causes defects in mitochondrial protein import machinery |
Myoclonic epilepsy with ragged red fibers | MERFF | Mutation in tRNA | |
Neuropathy, ataxia, and retinitis pigmentosa | NARP | Mutation in mRNA | Possible presence of sensorineural hearing loss |
Progressive external ophthalmoplegia | PEO | Multiple deletions | Ophthalmoplegia is a clinical hallmark of multiple deletions in mtDNA |
Unless otherwise noted.