Table 1.
List of mutations in 43 patients studied with CMT1X.
| Number | Mutation |
|---|---|
| 1 | c.-373G>A (5′UTR) |
| 2 | p.Trp3Stop |
| 3 | p.Arg15Gln |
| 4 | p.Arg22Gln |
| 5 | p.Leu25Phe |
| 6 | p.Ala39Val |
| 7 | p.Ala40Thr |
| 8 | p.Ser42CysfsX45 |
| 9 | p.Cys60Phe |
| 10 | p.Tyr65X |
| 11 | p.Gln80Lys |
| 12 | p.Val91Met |
| 13 | p.Val91Leu |
| 14 | p.Val91Gly |
| 15 | p.His94Arg |
| 16 | p.Arg107Trp |
| 17 | p.Arg142Gln |
| 18 | p.Arg142Trp |
| 19 | p.Phe153Ser |
| 20 | p.Tyrl 57Cys |
| 21 | p.Phe158Ser |
| 22 | p.Gly159Asp |
| 23 | p.Tyrl 60Cys |
| 24 | p.Arg164Gly |
| 25 | p.Leu165Pro |
| 26 | p.Cys173Arg |
| 27 | p.Val192Phe |
| 28 | p.Arg215Trp |
| 29 | p.Gly21Asn and |
| p.Met162Thr (same allele) |