Mutation detection rates of patients with CMT in various populations
| GJB1 | MFN2 | MPZ | HSPB1 | PMP22* | GDAP1 | NEFL | MME | BSCL2 | MARS | DNM2 | SETX | SH3TC2 | PRX | GARS | IGHMBP2 | LRSAM1 | Total | |
| Our study | 6.6% | 6.6% | 5.1% | 1.4% | 1.3% | 0.9% | 0.9% | 0.8% | 0.6% | 0.6% | 0.5% | 0.5% | 0.5% | 0.4% | 0.3% | 0.3% | 0.3% | 30.0% |
| (66) | (66) | (51) | (14) | (13) | (9) | (9) | (8) | (6) | (6) | (5) | (5) | (5) | (4) | (3) | (3) | (3) | (301/1005) | |
| Japan, 20118 | 8.3% | 4.7% | 1.7% | 0 | 3.3% | 0.3% | 2.7% | / | / | / | 0 | / | / | 1.7% | 0.3% | / | / | 29.9% |
| (25) | (14) | (5) | (0) | (10) | (1) | (8) | / | / | / | (0) | / | / | (5) | (1) | / | / | (90/301) | |
| UK, 201211 | 12.3% | 5.0% | 2.6% | 0.3% | 0.9% | 1.0% | 0.3% | / | 0.2% | / | / | / | 0.8% | / | / | / | / | 24.9% |
| (147) | (60) | (31) | (3) | (11) | (12) | (4) | / | (2) | / | / | / | (9) | / | / | / | / | (297/1192) | |
| German, 20139 | 13.1% | 3.3% | 5.8% | / | 2.2% | 0 | 0 | / | / | / | / | / | 0 | 0 | 0.6% | / | / | 30.6% |
| (47) | (12) | (21) | / | (8) | (0) | (0) | / | / | / | / | / | (0) | (0) | (2) | / | / | (110/360) | |
| Norway, 201312 | 4.0% | 3.6% | 3.3% | / | 0 | / | 0.7% | / | / | / | / | / | / | / | / | / | / | 11.6% |
| (12) | (11) | (10) | / | (0) | / | (2) | / | / | / | / | / | / | / | / | / | / | (35/302) | |
| Spain, 201314 | 22.0% | 1.6% | 7.5% | 2.8% | 0.8% | 16.5% | 1.6% | / | / | / | / | / | 11.0% | 1.6% | 0.4% | / | / | 71.3% |
| (56) | (4) | (19) | (7) | (2) | (42) | (4) | / | / | / | / | / | (28) | (4) | (1) | / | / | (181/254) | |
| USA, 201410 | 1.4% | 0.9% | 1.1% | 0.1% | 0.2% | 0.1% | 0.1% | / | / | / | / | / | 0.2% | 0.01% | 0.1% | / | / | 4.6% |
| (215) | (138) | (170) | (10) | (30) | (22) | (22) | / | / | / | / | / | (26) | (1) | (13) | / | / | (679/14840) | |
| Italy, 201415 | 14.4% | 2.1% | 7.2% | 1.0% | 7.2% | 8.2% | 1.0% | / | / | / | / | / | 3.1% | / | / | / | / | 49.5% |
| (14) | (2) | (7) | (1) | (7) | (8) | (1) | / | / | / | / | / | (3) | / | / | / | / | (48/97) | |
| CC, 201517 | 11.2% | 7.3% | 7.0% | 0.7% | 1.8% | 0.9% | 1.2% | / | 0.5% | / | / | / | 1.5% | 0.3% | 0.2% | / | / | 34.4% |
| (107) | (70) | (67) | (7) | (17) | (9) | (11) | / | (5) | / | / | / | (14) | (3) | (2) | / | / | (328/954) | |
| Korea, 201616 | 14.8% | 1.6% | 3.3% | 0 | 1.6% | 0 | 0 | / | 0 | 1.6% | 0 | 0 | 1.6% | 0 | 0 | 0 | 0 | 26.2% |
| (9) | (1) | (2) | (0) | (1) | (0) | (0) | / | (0) | (1) | (0) | (0) | (1) | (0) | (0) | (0) | (0) | (16/61) | |
| Denmark, 201813 | 2.7% | 2.0% | 2.3% | 0 | 0.4% | 0 | 0.1% | / | 0 | / | 0.1% | 0 | 0.1% | 0 | 0.1% | / | 0 | 8.3% |
| (32) | (24) | (27) | (0) | (5) | (0) | (1) | / | (0) | / | (1) | (0) | (1) | (0) | (1) | / | (0) | (98/1177) |
Numbers in () indicate case numbers; /, no data.
*PMP22 point mutation.
CC, cross-country;CMT, Charcot-Marie-Tooth disease.