Table 2.
Disease Characteristics of Mitochondrial Disease Patients (n = 37)
| Disease Characteristics | Frequency (n) | Proportion (%) |
|---|---|---|
| Genotype | ||
| m.3243A>G | 29 | 78 |
| Point mutations (mtDNA) | 5 | 14 |
| nDNA mutation | 2 | 5 |
| Deletion mtDNA | 1 | 3 |
| Phenotype | ||
| Mitochondrial myopathy | 14 | 38 |
| MIDD | 13 | 35 |
| MELAS | 4 | 11 |
| CPEO | 3 | 8 |
| Leigh syndrome | 2 | 5 |
| MERRF | 1 | 3 |
CPEO, chronic progressive external ophthalmoplegia; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes; MERRF, myoclonus epilepsy with ragged‐red fibers; MIDD, maternally inherited diabetes and deafness; mtDNA, mitochondrial DNA; nDNA, nuclear DNA.