Table 1. Clinical features, genetic etiology, percentage of RRF and COX deficient fibres.
| pat. | g | age (y) | phenotype | duration (y) | genetic etiology (gene) | RRF (%) | COX def. (%) |
|---|---|---|---|---|---|---|---|
| 1* | M | 12 | mental retard. | ND | control | 0 | 0 |
| 2* | M | 3 | mental retard. | ND | control | 0 | 0 |
| 3* | M | 7 | myocl. epilep. | ND | control | 0 | 0 |
| 4* | F | 7 | myocl. epilep. | ND | control | 0 | 0 |
| 5* | F | 32 | fibromyalgia | 12 | control | 0 | 0 |
| 6 | M | 69 | CPEO | 4 | mtDNA mult.del. (multiple) | 5 | 9 |
| 7 | F | 45 | CPEO | 15 | mtDNA mult.del. (multiple) | 2 | 3 |
| 8 | F | 45 | CPEO | 13 | mtDNA mult.del. (multiple) | 9 | 10 |
| 9 | F | 53 | CPEO | 26 | mtDNA mult.del. (multiple) | 18 | 20 |
| 10 | M | 64 | CPEO | 1 | mtDNA mult.del. (multiple) | 9 | 12 |
| 11 | F | 38 | MNGIE like | 19 | mtDNA mult.del. (multiple) | 6 | 4 |
| 12 | F | 63 | CPEO | 2 | mtDNA mult.del. (multiple) | 6 | 10 |
| 13 | M | 33 | MNGIE like | 9 | mtDNA mult.del. (multiple) | 4 | 13 |
| 14 | F | 38 | CPEO | 18 | mtDNA sing. del. (multiple) | 8 | 6 |
| 15 | M | 32 | CPEO | ND | mtDNA sing. del. (multiple) | 11 | 15 |
| 16 | F | 40 | CPEO | 15 | mtDNA sing. del. (multiple) | 5 | 12 |
| 17 | M | 16 | CPEO | 3 | mtDNA sing. del. (multiple) | 29 | 61 |
| 18 | F | 11 | CPEO | 3 | mtDNA sing. del. (multiple) | 4 | 7 |
| 19 | F | 18 | CPEO | 11 | mtDNA sing. del. (multiple) | 6 | 18 |
| 20 | M | 24 | CPEO | ND | mtDNA sing. del. (multiple) | 2 | 2 |
| 21 | M | 38 | CPEO | 4 | mtDNA sing. del. (multiple) | 5 | 6 |
| 22 | M | 16 | CPEO | 4 | mtDNA sing. del. (multiple) | 3 | 25 |
| 23 | F | 27 | CPEO | ND | mtDNA sing. del. (multiple) | 33 | 36 |
| 24 | F | 32 | CPEO | ND | mtDNA sing. del. (multiple) | 3 | 5 |
| 25 | M | 4 | MELAS | 2 | m.3243A>G (MT-TL1) | 12 | 1 |
| 26 | M | 45 | exerc. intol. | 1 | m.3243A>G (MT-TL1) | 18 | 17 |
| 27 | M | 19 | MELAS | 4 | m.3243A>G(MT-TL1) | 17 | 6 |
| 28 | F | 34 | CPEO | 22 | m.3251A>G(MT-TL1) | 26 | 23 |
| 29 | M | 10 | CPEO | 5 | m.4369_4370insA(MT-TQ) | 19 | 89 |
| 30 | F | 28 | myopathy | 21 | non-identified nuclear gene | 40 | 27 |
| 31 | M | 26 | dystonia | 6 | m.14459G>A (MT-ND6) | 0 | 0 |
* = patients used as controls for the TUNEL assay. pat = patient; g = gender; age = age at biopsy; M = male; F = female; y = years; MNGIE = mitochondrial neurogastrointestinal encephalopathy; CPEO = chronic progressive external ophthalmoplegia; retard. = retardation; myocl. epilep. = myoclonic epilepsy; CPEO = chronic progressive external ophthalmoplegia; MELAS = mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes; exerc. intol. = exercise intolerance; duration = duration of disease; ND = not defined, mtDNA = mitochondrial DNA; mult. del. = multiple deletions; sing. del = single deletion; nDNA = nuclear DNA; RRF = ragged red fibres; COX def. = cytochrome-c-oxidase deficient fibres.