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] |