Table 3 List of pathogenic variants assessed in 242 patients with McArdle disease
Mutation | Heterozygous | Homozygous |
|---|---|---|
c.148C>T | 86 | 108 |
c.613G>A | 21 | 5 |
c.2262delA | 13 | 4 |
c.1190T>C | 8 | 0 |
c.808C>T | 6 | 0 |
c.1A>G | 1 | 5 |
c.2392T>C | 7 | 0 |
c.1466C>G | 4 | 0 |
c.1282C>T | 3 | 0 |
c.13_14delCT | 3 | 0 |
c.1129A>T | 2 | 0 |
c.1162_1169delTGGCCGGTinsA | 2 | 0 |
c.1366G>A | 2 | 0 |
c.1468+1G>A | 2 | 0 |
c.1760T>C | 2 | 0 |
c.1769G>A | 1 | 1 |
c.1827G>A | 2 | 0 |
c.2056G>A | 2 | 0 |
c.2113_2114delGG | 2 | 0 |
c.2128_2130delTTC | 0 | 2 |
c.2143C>T | 2 | 0 |
c.2385_2386delAA | 2 | 0 |
c.415C>T | 1 | 1 |
c.481C>T | 2 | 0 |
c.661-601G>A | 1 | 1 |
c.1345G>A | 2 | 0 |
c.1768+1G>A | 2 | 0 |
c.2259_2261delA | 1 | 1 |
c.1275-1276insG | 2 | 0 |
c.2177+1G>A | 2 | 0 |
c.773-2A>T | 1 | 0 |
c.1463C>T | 1 | 0 |
c.1723A>G | 0 | 1 |
c.1730A>G | 1 | 0 |
p.R387Afs*37θ | 1 | 0 |
c.1805G>A | 1 | 0 |
c.1948C>T | 1 | 0 |
c.2075_2076delCCinsAAA | 1 | 0 |
c.2083G>A | 1 | 0 |
c.2441G>A | 1 | 0 |
c.244-3_244-2delCA | 1 | 0 |
c.255C>A | 1 | 0 |
c.347T>C | 1 | 0 |
c.458T>G | 1 | 0 |
c.580C>T | 1 | 0 |
c.715_717delGTC | 1 | 0 |
c.1093-1G>T | 1 | 0 |
c.1239+1 | 1 | 0 |
c.397G>A | 1 | 0 |
c.1475G>A | 1 | 0 |
c.1094C>A | 1 | 0 |
c.1093-2A>G | 1 | 0 |
c.1275delG | 1 | 0 |
c.507G>T | 0 | 1 |
c.558delC | 1 | 0 |
c.345+2T>A | 1 | 0 |
c.597-598delT | 1 | 0 |
p.V25fs51Xθ | 0 | 1 |
c.1477delC | 1 | 0 |
c.227delG | 1 | 0 |
c. 2178+1G>A | 1 | 0 |
c.1478T>C | 0 | 1 |
c.1700A>C | 0 | 1 |
c.1700A>G | 1 | 0 |