Patient | Sex | Age of onset (yr) | Diagnosis | Clinical features | [CK]rest (U L−1) | [L−]rest(mmol L−1) | Genetic defect | Mutant mtDNA | Muscle biopsy |
---|---|---|---|---|---|---|---|---|---|
1 | f | 20 | CPEO | ptosis, external ophthalmoplegia, facial weakness, slight general weakness | 219 | normal | mtDNA deletion 4977 bp | > 95 % | COX−, ragged blue fibers |
2 | m | 33 | CPEO | ptosis, external ophthalmoplegia, general weakness, exercise intolerance | 401 | normal | mtDNA deletion 4405Â bp | 90Â % | unremarkable |
3 | f | 62 | MM | mild proximal lower extremity weakness | normal | normal | mtDNA deletion 5–13 kbp | 49–71 % | COX−, ragged blue fibers |
4 | f | 12 | MM | exercise induced myalgia | 206 | normal | mtDNA deletion 10–13 kbp | 35 % | COX−, SDH+, ragged red fibers |
5 | f | 20 | MM | exercise induced myalgia | normal | normal | mtDNA deletion 6–10 kbp | 62 % | ragged red fibers |
6 | f | 39 | MM | exercise induced myalgia | normal | 5.3 | mtDNA deletion 8–12 kbp | 12–36 % | unremarkable |