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. 2019 Jan 29;8(2):100. doi: 10.3390/cells8020100

Table 2.

Mitochondrial diseases and their genomic localization.

Disease Clinical Manifestations Location
Leber Hereditary Optic Neuropathy (LHON) Bilateral, painless subacute visual failure Mutations in MT-ND1, MT-ND4 or MT-ND6 gene [179,180]
Myoclonic Epilepsy with Ragged Red Fibers (MERRF) Myoclonus epilepsy, ataxia, muscle weakness and dementia Mutations in MT-TK encoding tRNA lysine (tRNALys). A-to-G transition at nucleotide 8344 [178,181]
Pearson’s syndrome Sideroblastic anemia and exocrine pancreas dysfunction Mitochondrial DNA deletion [174,182]
Kearns-Sayre Syndrome (KSS) Pigmentary retinopathy Mitochondrial DNA deletion [176]
Mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS) Mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes. Other features include headache, seizures, muscle weakness Point mutation in the tRNA leucineUUR gene of mitochondrial DNA. A to G transition at nucleotide 3243 [173]