Skip to main content
. 2018 Jul 1;7(1):107–115. doi: 10.1089/biores.2018.0017

Table 1.

Representative Mitochondrial Disorders Associated with Hearing Impairment/Deafness

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
a

Unless otherwise noted.