Common mitochondrial phenotypes in adults
| Mitochondrial phenotypes | Genetics | Inheritance |
|---|---|---|
| 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. | ||
| CPEO | Deletion in MtDNA | Sporadic |
| Multiple deletions | AR/AD | |
| MtDNA point mutations | Maternal | |
| Myopathy | Deletion MtDNA | Sporadic |
| MtDNA point mutations | Sporadic or maternal | |
| MELAS | MtDNA point mutation (A3243G) | Maternal |
| MERRF | MtDNA point mutation (A8344G) | Maternal |
| LHON | MtDNA point mutation (11778) | Maternal |