Supplemental Table 1.
Clinical presentations and genotype of 45 late-onset MADD patients
| No. | Onset age (y) | Disease course | Exercise intoleranee | Vomiting or diarrhea | Dysmasesis | Myodynia | Fatty liver | Pulmonary dysfunction | Amyotrophia | Genotype |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 15 | 16 y | 1 | 0 | 1 | 0 | 1 | c. 250G>A, c. 524G>A | ||
| 2 | 20 | 8 y | 1 | 0 | 0 | 0 | 0 | c. 1395T>G, ? | ||
| 3 | 9 | 10 y | 1 | 0 | 0 | 1 | 0 | c. 250G>A, c. 250G>A | ||
| 4 | 25 | 3 m | 1 | 0 | 0 | 1 | 0 | c. 250G>A, c. 250G>A | ||
| 5 | 38 | 3 y | 1 | 0 | 1 | 1 | 0 | c. 250G>A, c. 250G>A | ||
| 6 | 14 | 2 y | 1 | 0 | 0 | 0 | 1 | c. 250G>A, c. 250G>A | ||
| 7 | 26 | 15 y | 1 | 1 | 1 | 1 | 0 | c. 250G>A, c. 250G>A | ||
| 8 | 23 | 10 y | 1 | 1 | 1 | 1 | 0 | c. 250G>A, c. 250G>A | ||
| 9 | 27 | 10 y | 1 | 1 | 1 | 0 | 0 | c. 250G>A, c. 250G>A | ||
| 10 | 22 | 2 y | 1 | 1 | 1 | 1 | 1 | c. 250G>A, c. 250G>A | ||
| 11 | 22 | 2 y | 1 | 1 | 1 | 0 | 0 | c. 250G>A, ? | ||
| 12 | 30 | 4 m | 1 | 0 | 1 | 1 | 0 | c. 250G>A, c. 250G>A | ||
| 13 | 17 | 18 y | 1 | 1 | 1 | 1 | 0 | c. 250G>A, c. 250G>A | ||
| 14 | 29 | 3 y | 1 | 1 | 0 | 0 | 1 | 1 | 0 | c. 250G>A, c. 380T>A |
| 15 | 6 | 12 y | 1 | 0 | 0 | 1 | 1 | 1 | 0 | c. 250G>A, c. 524G>A |
| 16 | 14 | 6 y | 1 | 1 | 0 | 0 | 1 | 1 | 0 | c. 250G>A, c. 409C>T |
| 17 | 37 | 6 y | 1 | 1 | 0 | 1 | 0 | c. 250G>A, c. 643G>A | ||
| 18 | 14 | 3 y | 1 | 0 | 0 | 0 | 1 | 1 | 0 | c. 250G>A, ? |
| 19 | 4 | 18 y | 1 | 0 | 0 | 0 | 1 | 1 | 0 | c. 250G>A, c. 250G>A |
| 20 | 19 | 6 y | 1 | 0 | 0 | 1 | 0 | 0 | 0 | c. 250G>A, c. 524G>A |
| 21 | 4 | 2 y | 1 | 0 | 0 | 0 | 1 | c. 250G>A, c. 250G>A | ||
| 22 | 5 | 21 y | 1 | 1 | 1 | 0 | 1 | c. 250G>A, c. 250G>A | ||
| 23 | 40 | 1 y | 1 | 1 | 1 | 1 | 1 | c. 250G>A, c. 250G>A | ||
| 24 | 25 | 2 m | 1 | 0 | 1 | 1 | 1 | c. 250G>A, c. 250G>A | ||
| 25 | 23 | 20 y | 1 | 1 | 1 | 0 | 1 | c. 250G>A, c. 250G>A | ||
| 26 | 44 | 6 m | 1 | 1 | 0 | 1 | 0 | c. 250G>A, c. 250G>A | ||
| 27 | 22 | 8 m | 1 | 1 | 0 | 1 | 0 | c. 250G>A, c. 250G>A | ||
| 28 | 17 | 2 m | 1 | 1 | 1 | 1 | 0 | c. 250G>A, c. 998A>G | ||
| 29 | 33 | 9 m | 1 | 1 | 0 | 1 | 1 | 1 | 0 | c. 250G>A, c. 250G>A |
| 30 | 21 | 7 y | 1 | 1 | 0 | 0 | 0 | 0 | 0 | c. 250G>A, ? |
| 31 | 41 | 2 m | 1 | 0 | 0 | 1 | 1 | 1 | 0 | c. 250G>A, c. 250G>A |
| 32 | 22 | 7 y | 1 | 0 | 0 | 1 | 0 | 0 | 0 | c. 250G>A, c. 770A>G |
| 33 | 20 | 8 y | 1 | 1 | 1 | 0 | 1 | 1 | c. 250G>A, c. 250G>A | |
| 34 | 10 | 2 m | 1 | 1 | 1 | 0 | 0 | c. 250G>A, c. 250G>A | ||
| 35 | 26 | 1 y | 1 | 1 | 1 | 1 | 1 | c. 250G>A, c. 250G>A | ||
| 36 | 16 | 4 m | 1 | 0 | 0 | 0 | 1 | 1 | 1 | c. 250G>A, c. 250G>A |
| 37 | 19 | 6 m | 1 | 0 | 1 | 1 | 0 | c. 250G>A, c. 250G>A | ||
| 38 | 21 | 6 m | 1 | 1 | 1 | 1 | 0 | c. 770A>G, ? | ||
| 39 | 14 | 28 y | 1 | 0 | 1 | 0 | 0 | c. 250G>A, c. 1601C>T | ||
| 40 | 28 | 4 y | 1 | 1 | 1 | 0 | 1 | 1 | 0 | c. 250G>A, c. 250G>A |
| 41 | 24 | 15 y | 1 | 1 | 1 | 0 | 1 | 1 | 0 | c. 250G>A, c. 250G>A |
| 42 | 19 | 1 y | 1 | 1 | 1 | 0 | 1 | 1 | 0 | c. 250G>A, c. 250G>A |
| 43 | 20 | 1 y | 1 | 1 | 1 | 0 | 0 | 0 | 0 | c. 250G>A, c. 250G>A |
| 44 | 17 | 21 y | 1 | 0 | 0 | 0 | 0 | c. 250G>A, c. 250G>A | ||
| 45 | 17 | 10 y | 1 | 1 | 1 | 0 | 1 | 1 | 0 | c. 250G>A, c. 770A>G |
The empty spaces in this table mean that the data is unavailable. 1: Positive; 0: Negative; m: Months; y: Years. ?: The other mutation site was not detected in ETFA, ETFB, and ETFDH genes.