Table 5

Common mitochondrial phenotypes in adults

Mitochondrial phenotypesGeneticsInheritance
AD, autosomal dominant; AR, autosomal recessive; CPEO, chronic progressive ophthalmoplegia; LHON, Lebers hereditary optic neuropathy; MELAS, mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes; MERRF, mitochondrial encephalopathy with ragged red fibres.
CPEODeletion in MtDNASporadic
Multiple deletionsAR/AD
MtDNA point mutationsMaternal
MyopathyDeletion MtDNASporadic
MtDNA point mutationsSporadic or maternal
MELASMtDNA point mutation (A3243G)Maternal
MERRFMtDNA point mutation (A8344G)Maternal
LHONMtDNA point mutation (11778)Maternal