Table 1.
PYGM mutations identified in all Spanish McArdle patients (N = 333)
| Type of mutation | N | % |
|---|---|---|
| p.R50X (c.148C > T) / p.R50X (c.148C > T) | 114 | 34.2% |
| p.R50X (c.148C > T) / p.W798R (c.2392 T > C) | 29 | 8.7% |
| p.G205S (c.613G > A) / p.G205S (c.613G > A) | 20 | 6.0% |
| p.W798R (c.2392 T > C) / p.W798R (c.2392 T > C) | 16 | 4.8% |
| p.R50X (c.148C > T) / p.G205S (c.613G > A) | 14 | 4.2% |
| p.R50X (c.148C > T) / p.K754fsX49 (c.2262delA) | 8 | 2.4% |
| p.C784X (c.2352C > A) / p.R94W (c.280C > T) | 5 | 1.5% |
| p.R50X (c.148C > T) / p.R94W (c.280C > T) | 6 | 1.8% |
| p.R50X (c.148C > T) / p.R602W (c.1804C > T) | 3 | 0.9% |
| p.R50X (c.148C > T) / p.A660D (c.1979C > A) | 3 | 0.9% |
| p.R50X (c.148C > T) / p.E383K (c.1147G > A) | 3 | 0.9% |
| p.G205S (c.613G > A) / c.1768 + 1G > A | 2 | 0.6% |
| p.R50X (c.148C > T) / c.1768 + 1G > A | 4 | 1.2% |
| p.R50X (c.148C > T) / p.A365V (c.1094C > T) | 3 | 0.9% |
| p.R50X (c.148C > T) / p.A55GfsX21 (c.163_167delGCTCT) | 2 | 0.6% |
| p.R50X (c.148C > T) / p.A704V (c.2111C > T) | 4 | 1.2% |
| p.R50X (c.148C > T) / p.D534fsX5 (c.1601delA) | 2 | 0.6% |
| p.R50X (c.148C > T) / p.L5VfsX22 (c.13_14delCT) | 3 | 0.9% |
| p.R50X (c.148C > T) / p.R194W (c.580C > T) | 2 | 0.6% |
| p.R50X (c.148C > T) / p.R715W (c.2143C > T) | 3 | 0.9% |
| p.R50X (c.148C > T) / p.T488 N (c.1463C > A) + p.K215 K (c.645G > A) | 2 | 0.6% |
| p.R576X (c.1726C > T) / p.G136AfsX159 (c.407G > A) | 2 | 0.6% |
| p.R771PfsX33 (c.2310_2311dupCC) / p.R771PfsX33 (c.2310_2311dupCC) | 2 | 0.6% |
| p.W388SfsX34 (c.1162_1169delTGGCCGGTinsA)/p.K754fsX49 (c.2262delA) | 2 | 0.6% |
| p.W798R (c.2392 T > C) / p.K215 K (c.645G > A) | 2 | 0.6% |
| p.K609 K (c.1827 G > A) / p.K609 K (c.1827 G > A) | 1 | 0.3% |
| p. Y733X (c.2199C > G) + p.Y733X (c.2199C > G) | 1 | 0.3% |
| p.A55GfsX21 (c.163_167delGCTCT) / p.A55GfsX21 (c.163_167delGCTCT) | 1 | 0.3% |
| p.A660D (c.1979C > A) / p.A660D (c.1979C > A) | 1 | 0.3% |
| p.E125X (c.373G > T) / p.E125X (c.373G > T) | 1 | 0.3% |
| p.G174D (C.521G > A) / p.K609 K (c.1287G > A) | 1 | 0.3% |
| p.G205S (c.613G > A) / p.A365V (c.1094C > T) | 1 | 0.3% |
| p.G205S (c.613G > A) / p.I83F (c.247A > T) | 1 | 0.3% |
| p.G205S (c.613G > A) / p.Q176_M177insVQ (c.529-8 g > a) | 1 | 0.3% |
| p.I83F (c.247A > T)/ p.R94W (c.280C > T) | 1 | 0.3% |
| p.K754NfsX49 (c.2262delA) / c.2380-1G > A | 1 | 0.3% |
| p.K754NfsX49 (c.2262delA) / p.K754NfsX49 (c.2262delA) | 3 | 0.9% |
| p.L116P (c.347 T > C) / p.L116P (c.347 T > C) | 1 | 0.3% |
| p.L587P (c.1760 T > C) / p.A660D (c.1730A > G) | 2 | 0.6% |
| p.L5VfsX22 (c.13_14delCT) / p.K754fsx49 (c.2262delA) | 1 | 0.3% |
| p.M442 K (c.1325 T > A) / p.M442 K (c.1325 T > A) | 1 | 0.3% |
| p.N134KfsX161 (c.402delC) / p.R491AfsX7 (c.1470dupG) | 1 | 0.3% |
| p.Q577R (c.1730A > G) / p.A660D (c.1730A > G) | 1 | 0.3% |
| p.R194W (c.580C > T) + p.E797VfsX18 (c.2385_2386delAA)/p.R194W (c.580C > T) + p.E797VfsX18 (c.2385_2386delAA) | 1 | 0.3% |
| p.R50X (c.148C > T) / a | 4 | 1.2% |
| p.R50X (c.148C > T) / c.(1969 + 214)_(2177 + 369)de | 1 | 0.3% |
| p.R50X (c.148C > T) / c.1827 G > A | 1 | 0.3% |
| p.R50X (c.148C > T) / c.855 + 5G > A | 1 | 0.3% |
| p.R50X (c.148C > T) / p.E349K (c.1045G > A) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.G455R (c.1363G > C) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.G695R (c.2083G > A) | 2 | 0.6% |
| p.R50X (c.148C > T) / p.K215 K (c.645G > A) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.L587P (c.1760 T > C) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.L5VfsX22 (c.13_14delCT) + p.R324G | 2 | 0.6% |
| p.R50X (c.148C > T) / p.N685Y (c.2053A > T) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.Q734HfsX7 (c.211_217dupCGCAGCA) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.Q755X (c.2263C > T) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.R576X (c.1726C > T) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.T488 N (c.1463C > A) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.T692KfsX30 (c.2075_2076delCCinsAAA) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.W388SfsX34 (c.1162_1169delTGGCCGGTinsA) | 1 | 0.3% |
| p.R50X (c.148C > T) / R715W (c.2143C > T) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.V456 M (c.1366G > A) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.L354P (c.1061 T > C) | 1 | 0.3% |
| p.W798R (c.2392 T > C) / p.R590H (c.1769G > A) | 1 | 0.3% |
| p.Y574X (c.1722 T > G) / p.K609 K (c.1827G > A) | 1 | 0.3% |
| p.L5VfsX22 (c.13_14delCT) / p.L5VfsX22 (c.13_14delCT) | 4 | 1.2% |
| p.R50X (c.148C > T) / p.E27AfsX50 (c.78_79delTG) | 2 | 0.6% |
| p.R50X (c.148C > T) / p.L116P (c.347 T > C) | 1 | 0.3% |
| c.1092-1G > T / c.2444-3_244-2delCA | 1 | 0.3% |
| p.R50X (c.148C > T) / p.K609 K (c.1287G > A) | 1 | 0.3% |
| p.R491Afs (c.1470dupG) / a | 1 | 0.3% |
| p.W388SfsX421 (c.1162_1169delTGGCCGGT)/p.W388SfsX421 (c.1162_1169delTGGCCGGT) | 1 | 0.3% |
| p.G205S (c.613G > A) / p.R590H (c.1769G > A) | 1 | 0.3% |
| p.W798R (c.2392 T > C) / a | 1 | 0.3% |
| p.R50X (c.148C > T) / p.R490W (c.1468C > T) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.V456 M (c.1366G > A) | 1 | 0.3% |
| p.W798R (c.2392 T > C) / c.212_218dup (p.Q73HfsX) | 1 | 0.3% |
| c.2262delA (p.K754Nfs) / c.244-3_244-2delCA | 1 | 0.3% |
| p.K754fsX49 (c.2262delA) / c.773-2A > T | 1 | 0.3% |
| p.Q734HfsX7 (c.211_217dupCGCAGCA) / p.Q734HfsX7 (c.211_217dupCGCAGCA) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.R576Q | 1 | 0.3% |
| p.R50X (c.148C > T) / p.L132WfsX153 (c.393delG) | 1 | 0.3% |
| p.R50X (c.148C > T) / p.Q176P (c.527A > C) | 1 | 0.3% |
| p.R491Afs (c.1470dupG) / p.R491Afs (c.1470dupG) | 1 | 0.3% |
| p.R94W (c.280C > T) / p.R94W (c.280C > T) | 1 | 0.3% |
| p.G135R (c.403G > A) / p.R70C | 1 | 0.3% |
| c.244-3_244-2delCA / c.1093-1G > T | 1 | 0.3% |
| p.R50X (c.148C > T) / p.H35R (c.104A > G) | 1 | 0.3% |
| p.W798R (c.2392 T > C) / p.A365V (c.1094C > T) | 1 | 0.3% |
aUnidentified mutation in one allele