Common mitochondrial phenotypes in adults
Phenotype | Genetics | Inheritance |
PEO | Deletion in mtDNA | Sporadic |
Multiple deletions (POLG) | AR/AD | |
mtDNA point mutations | Maternal | |
Myopathy | Deletion in mtDNA | Sporadic |
mtDNA point mutations | Sporadic or maternal | |
KSS | Deletion in mtDNA | Sporadic |
MELAS | mtDNA point mutation (m.3243A>G) | Maternal |
MERRF | mtDNA point mutation (m.8344A>G) | Maternal |
LHON | mtDNA point mutation (m.11778G>A) | Maternal |
Adult LS | mtDNA point mutation (m.8344A>G) | Maternal |
AD, autosomal dominant; AR, autosomal recessive; KSS, Kearns–Sayre syndrome; LHON, Leber hereditary optic neuropathy; LS, Leigh syndrome; MELAS, mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes; MERRF, myoclonus epilepsy with ragged red fibres; mtDNA, mitochondrial DNA; PEO, progressive external ophthalmoplegia.
Further details about mtDNA mutations can be found in the MitoMap database http://www.mitomap.org