Table S1.
Demographic and clinical characteristics of patients
| Patient ID | Diagnosis | Severity | Gender | Age,y | Height, cm | Weight, kg | BMI, kg/m2 | Test | Venous lactate, mM | Venous potassium,mEq/L | Creatine kinase, U/L | Exercise testing |
| Mitochondrial myopathy | ||||||||||||
| Mi-1 | mtDNA del | Moderate | F | 45 | 165.1 | 81.4 | 29.8 | A | 0.97 | 4 | 182 | Yes |
| Mi-2 | mtDNA del | Moderate | F | 42 | 165.1 | 94.5 | 34.7 | A | 0.99 | 4.9 | 401 | Yes |
| B | 0.97 | 4.4 | 89 | |||||||||
| Mi-3 | mtDNA del | Moderate | M | 49 | 162.6 | 57.3 | 21.7 | A | 0.95 | 4.1 | 112 | Yes |
| Mi-4 | m.3243A>G | Severe | F | 25 | 154.9 | 42.7 | 17.8 | A | 2.09 | 4.4 | 301 | Yes |
| Mi-5 | mtDNA del | Moderate | F | 36 | 167.6 | 75.0 | 26.7 | A | 0.88 | 5.6 | 145 | Yes |
| B | 0.94 | 4.3 | 106 | |||||||||
| Mi-6 | mtDNA del | Moderate | F | 45 | 165.1 | 70.9 | 26.0 | A | 1.08 | 4.6 | 162 | No |
| B | 1.00 | 4.5 | 166 | |||||||||
| Mi-7 | m.10010T>C | Severe | M | 32 | 175.3 | 95.5 | 31.1 | A | 2.95 | 4.4 | 614 | Yes |
| Mi-8 | m.12261T>C | Mild | F | 58 | 162.6 | 60.9 | 23.0 | B | 0.98 | 3.8 | 36 | Yes |
| Mi-9 | ISCU | Severe | M | 43 | 180.3 | 80.0 | 24.6 | A | 1.01 | 3.5 | 329 | Yes |
| B | 1.41 | 3.6 | 501 | |||||||||
| Mi-10 | mtDNA del | Moderate | F | 27 | 175.3 | 76.8 | 25.0 | A | 1.21 | 3.8 | 92 | Yes |
| B | 1.59 | 4.1 | 62 | |||||||||
| Mi-11 | ISCU | Severe | M | 42 | 177.8 | 85.0 | 26.9 | A | 1.51 | 4.5 | 108 | Yes |
| B | 2.06 | 4.2 | 119 | |||||||||
| Mi-12 | m.4281A>G | Moderate | F | 40 | 165.1 | 71.4 | 26.2 | A | 0.6 | 4 | 120 | Yes |
| B | 0.55 | 4.4 | 131 | |||||||||
| Mi-13 | m.3243A>G | Moderate | F | 44 | 160.0 | 55.0 | 21.5 | A | 1.64 | 5.1 | 191 | Yes |
| Mi-14 | MT-CYTB | Severe | F | 38 | 160.0 | 57.7 | 22.5 | A | 1.50 | 3.9 | 116 | Yes |
| Mi-15 | mtDNA del | Moderate | F | 41 | 157.5 | 59.1 | 23.8 | A | 1.63 | 4.9 | 145 | No |
| Mi-16 | m.8344A>G | Severe | F | 45 | 162.6 | 65.9 | 24.9 | A | 1.68 | 4.8 | 92 | No |
| Mi-17 | Mult mtDNA del | Moderate | F | 52 | 167.6 | 55.9 | 19.9 | A | 1.01 | 3.8 | 126 | No |
| Mi-18 | Mult mtDNA del | F | 56 | 157.5 | 63.6 | 25.7 | A | 1.28 | 3.7 | 73 | No | |
| Mi-19 | m.3243A>G | Mild | F | 47 | 160.0 | 51.4 | 20.1 | A | 1.44 | 3.3 | 271 | Yes |
| B | 2.03 | 3.3 | 330 | |||||||||
| Mi-20 | m.5543T>C | Severe | M | 64 | 167.6 | 76.4 | 27.2 | A | 2.72 | 4.5 | 193 | Yes |
| B | 2.39 | 4.3 | 266 | |||||||||
| Mi-21 | mtDNA del | Moderate | M | 43 | 170.2 | 61.4 | 21.2 | A | 1.03 | 4 | 186 | Yes |
| B | 1.39 | 4.1 | 729 | |||||||||
| McArdle disease | ||||||||||||
| Mc-1 | F | 32 | 175.3 | 88.2 | 28.7 | A | 0.62 | 3.8 | 1,531 | Yes | ||
| Mc-2 | M | 16 | 172.7 | 62.3 | 20.9 | A | 1.30 | 3.9 | NA | Yes | ||
| Mc-3 | M | 18 | 175.3 | 61.4 | 20.0 | A | 0.83 | 4.1 | 42,528 | Yes | ||
| Mc-4 | M | 71 | 180.3 | 77.3 | 23.8 | A | 0.53 | 4 | 505 | No | ||
| Mc-5 | M | 19 | 177.8 | 75.5 | 23.9 | A | 0.68 | 3.6 | 4,470 | Yes | ||
| Mc-6 | F | 23 | 165.1 | 61.6 | 22.6 | A | 0.67 | 4.1 | 29,040 | Yes | ||
| B | 0.51 | 3.9 | 3,852 | |||||||||
| Mc-7 | M | 19 | 185.4 | 93.6 | 27.2 | A | 0.67 | 4.1 | NA | Yes | ||
| Mc-8 | F | 40 | 157.5 | 59.1 | 23.8 | A | 0.7 | 3.7 | 6,960 | Yes | ||
| Mc-9 | F | 54 | 160.0 | 53.6 | 20.9 | A | 0.72 | NA | 288 | Yes | ||
| Mc-10 | F | 53 | 165.1 | 100.0 | 36.7 | A | 0.45 | 3.9 | 2,014 | Yes | ||
| Mc-11 | M | 19 | 177.8 | 75.0 | 23.7 | A | 0.91 | 3.7 | 2,556 | Yes | ||
| Mc-12 | M | 54 | 182.9 | 105.0 | 31.4 | A | 0.95 | 4.6 | NA | No | ||
Exercise testing, whether the patient underwent exercise testing; BMI, body mass index; ISCU, mutation in the nuclear-encoded ISCU gene; M/F, male/female; MT-CYTB, mutation in mtDNA cytochrome b; mtDNA del, mtDNA deltion; mult mtDNA del, multiple mtDNA deletions; NA, not applicable; Test A/B, first or second exercise test;.