Table 2

Common mitochondrial phenotypes in adults

PhenotypeGeneticsInheritance
PEODeletion in mtDNASporadic
Multiple deletions (POLG)AR/AD
mtDNA point mutationsMaternal
MyopathyDeletion in mtDNASporadic
mtDNA point mutationsSporadic or maternal
KSSDeletion in mtDNASporadic
MELASmtDNA point mutation (m.3243A>G)Maternal
MERRFmtDNA point mutation (m.8344A>G)Maternal
LHONmtDNA point mutation (m.11778G>A)Maternal
Adult LSmtDNA 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