| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Disease | Symptom | Hereditary Pattern*2 | Onset | Reference |
| M | 68 | 1 | C | V23A | 1 | GTA-GCA at ntd 68 --> Val-Ala at codon 23 | X-linked Charcot-Marie-Tooth disease type 2 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bort (1997) Hum. Genet. 99, 746. |
| M | 191 | 1 | C | C64S | 1 | TGC-TCC at ntd 191 --> Cys-Ser at codon 64 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bort (1997) Hum. Genet. 99, 746. |
| M | 259 | 1 | T | P87S | 1 | CCA-TCA at ntd 259 --> Pro-Ser at codon 87 | X-linked Charcot-Marie-Tooth disease type 2 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bort (1997) Hum. Genet. 99, 746. |
| M | 490 | 1 | T | R164W | 1 | CGG-TGG at ntd 490 --> Arg-Trp at codon 164 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bort (1997) Hum. Genet. 99, 746. |
| M | 491 | 1 | A | R164G | 2 | CGG-CAG at ntd 491 --> Arg-Gln at codon 164 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bort (1997) Hum. Genet. 99, 746. |
| M | 547 | 1 | A | R183S | 1 | CGC-AGC at ntd 547 --> Arg-Ser at codon 183 | X-linked Charcot-Marie-Tooth disease type 2 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bort (1997) Hum. Genet. 99, 746. |
| M | 548 | 1 | A | R183H | 1 | CGC-CAC at ntd 548 --> Arg-His at codon 183 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bort (1997) Hum. Genet. 99, 746. |
| M | 547 | 1 | T | R183C | 1 | CGC-TGC at ntd 547 --> Arg-Cys at codon 183 | X-linked Charcot-Marie-Tooth disease type 2 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bort (1997) Hum. Genet. 99, 746. |
| M | 643 | 1 | T | R215W | 1 | CGG-TGG at ntd 643 --> Arg-Trp at codon 215 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bort (1997) Hum. Genet. 99, 746. |
| N | 65 | 2 | TA | R22X | 1 | CGA-TAA at ntd 65 --> Arg-Term at codon 22 | X-linked Charcot-Marie-Tooth disease type 1 | severe distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| M | 65 | 1 | A | R22Q | 2 | CGA-CAA at ntd 65 --> Arg-Gln at codon 22 | X-linked Charcot-Marie-Tooth disease type 1 | moderate to severe distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| M | 230 | 1 | C | W77S | 1 | TGG-TCG at ntd 230 --> Trp-Ser at codon 77 | X-linked Charcot-Marie-Tooth disease type 1 | mild distal muscle atrophy, areflexia and foot deformity | XD | late | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| M | 239 | 1 | G | Q80R | 1 | CAG-CGG at ntd 239 --> Gln-Arg at codon 80 | X-linked Charcot-Marie-Tooth disease type 1 | mild distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| M | 305 | 1 | G | Q102G | 4 | GAG-GGG at ntd 305 --> Glu-Gly at codon 102 | X-linked Charcot-Marie-Tooth disease type 1 | mild distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| D | 331 | 18 | 331del18 | 1 | 18-bp del at nucleotide 331-348 --> del of 6 amino acids at codons 111-116 | X-linked Charcot-Marie-Tooth disease type 1 | mild to moderate distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. | |
| M | 424 | 1 | T | R142W | 2 | CGG-TGG at ntd 424 --> Arg-Trp at codon 142 | X-linked Charcot-Marie-Tooth disease type 1 | mild distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| M | 490 | 1 | T | R164W | 2 | CGG-TGG at ntd 490 --> Arg-Trp at codon 164 | X-linked Charcot-Marie-Tooth disease type 1 | moderate to severe distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| FI | 556 | 0 | G | 556insG | 1 | 1-bp ins of G at nucleotide 556 --> frameshift at codon 186 | X-linked Charcot-Marie-Tooth disease type 1 | severe distal muscle atrophy, areflexia and foot deformity | XD | late | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| N | 556 | 1 | T | Q186X | 1 | GAG-TAG at ntd 556 --> Glu-Term at codon 186 | X-linked Charcot-Marie-Tooth disease type 1 | severe distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| N | 651 | 1 | A | C217X | 2 | TGT-TGA at ntd 651 --> Cys-Term at codon 217 | X-linked Charcot-Marie-Tooth disease type 1 | severe distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| N | 658 | 1 | T | R220X | 1 | CGA-TGA at ntd 658 --> Arg-Term at codon 220 | X-linked Charcot-Marie-Tooth disease type 1 | severe distal muscle atrophy, areflexia and foot deformity | XD | late | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| FD | 793 | 29 | 793del29 | 1 | del of 29-bp at nucleotides 793-821 --> termination at codon 266 | X-linked Charcot-Marie-Tooth disease type 1 | severe distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. | |
| M | 8 | 1 | C | W3S | 1 | TGG-TCG at ntd 8 --> Trp-Ser at codon 3 | X-linked Charcot-Marie-Tooth disease type 1 | moderate to severe distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| M | 7 | 1 | C | W3R | 1 | TGG-CGG at ntd 7 --> Trp-Arg at codon 3 | X-linked Charcot-Marie-Tooth disease type 1 | mild distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Am. J. Med. Genet. 63, 486. |
| M | 34 | 1 | A | G12S | 1 | GGC-AGC at ntd 34 --> Gly-Ser at codon 12 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bergoffen (1993) Science 262, 2039. |
| M | 415 | 1 | A | V139M | 2 | GTG-ATG at ntd 415 --> Val-Met at codon 139 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bergoffen (1993) Science 262, 2039. |
| M | 424 | 1 | T | R142W | 1 | CGG-TGG at ntd 424 --> Arg-Trp at codon 142 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bergoffen (1993) Science 262, 2039. |
| M | 467 | 1 | G | L156R | 1 | CTC-CGC at ntd 467 --> Leu-Arg at codon 156 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bergoffen (1993) Science 262, 2039. |
| M | 514 | 1 | T | P172S | 1 | CCC-TCC at ntd 514 --> Pro-Ser at codon 172 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bergoffen (1993) Science 262, 2039. |
| M | 556 | 1 | A | E186K | 1 | GAG-AAG at ntd 556 --> Glu-Lys at codon 186 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bergoffen (1993) Science 262, 2039. |
| M | 415 | 1 | A | V139M | 1 | CTG-ATG at ntd 415 --> Val-Met at codon 139 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bone (1995) Neurology 45, 1863. |
| M | 397 | 1 | C | W133R | 1 | TGG-CGG at ntd 397 --> Trp-Arg at codon 133 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bone (1995) Neurology 45, 1863. |
| N | 658 | 1 | T | R220X | 2 | CGA-TGA at ntd 658 --> Arg-Term at codon 220 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bone (1995) Neurology 45, 1863. |
| M | 89 | 1 | A | I30N | 1 | ATC-AAC at ntd 89 --> Ile-Asn at codon 30 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bone (1995) Neurology 45, 1863. |
| M | 467 | 1 | G | L156R | 1 | CTC-CGC at ntd 467 --> Leu-Arg at codon 156 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bone (1995) Neurology 45, 1863. |
| M | 194 | 1 | G | Y65C | 1 | TAT-TGT at ntd 194 --> Tyr-Cys at codon 65 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bone (1995) Neurology 45, 1863. |
| M | 37 | 1 | T | V13L | 1 | GTG-TTG at ntd 37 --> Val-Leu at codon 13 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bone (1995) Neurology 45, 1863. |
| FD | 410 | 1 | 410delT | 1 | 1-bp del of T at nucleotide 410 --> frameshift at codon 137 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bone (1995) Neurology 45, 1863. | |
| M | 283 | 1 | A | V95M | 1 | GTG-ATG at ntd 283 --> Val-Met at codon 95 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Bone (1995) Neurology 45, 1863. |
| M | 44 | 1 | A | R15E | 1 | CGG-CAG at ntd 44 --> Arg-Gln at codon 15 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Fairweather (1994) Hum. Mol. Genet. 3, 29. |
| M | 179 | 1 | T | C60F | 1 | TGC-TTC at ntd 179 --> Cys-Phe at codon 60 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Fairweather (1994) Hum. Mol. Genet. 3, 29. |
| M | 187 | 1 | A | V63I | 1 | GTT-ATT at ntd 187 --> Val-Ile at codon 63 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Fairweather (1994) Hum. Mol. Genet. 3, 29. |
| FD | 217 | 1 | 217delC | 1 | 1-bp del of C at nucleotide 217 --> frameshift at codon 73 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Fairweather (1994) Hum. Mol. Genet. 3, 29. | |
| D | 428 | 3 | 428delTGT | 1 | 3-bp del of TGT at nucleotides 428-430 --> del of Leu at codon 143 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Fairweather (1994) Hum. Mol. Genet. 3, 29. | |
| M | 622 | 1 | A | Q208K | 1 | GAG-AAG at ntd 622 --> Gln-Lys at codon 208 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Fairweather (1994) Hum. Mol. Genet. 3, 29. |
| M | 643 | 1 | T | R215W | 1 | CGG-TGG at ntd 643 --> Arg-Trp at codon 215 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Fairweather (1994) Hum. Mol. Genet. 3, 29. |
| N | 658 | 1 | T | R220X | 1 | CGA-TGA at ntd 658 --> Arg-Term at codon 220 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Fairweather (1994) Hum. Mol. Genet. 3, 29. |
| M | 43 | 1 | T | R15W | 1 | CGG-TGG at ntd 43 --> Arg-Trp at codon 15 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Janssen (1997) Hum. Genet. 99, 501. |
| N | 64 | 1 | T | R22X | 1 | CGA-TGA at ntd 64 --> Arg-Term at codon 22 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Janssen (1997) Hum. Genet. 99, 501. |
| M | 187 | 1 | A | V63I | 1 | GTT-ATT at ntd 187 --> Val-Ile at codon 63 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Janssen (1997) Hum. Genet. 99, 501. |
| M | 254 | 1 | G | S85C | 1 | TCC-TGC at ntd 254 --> Ser-Cys at codon 85 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle paresis | XD | late | Janssen (1997) Hum. Genet. 99, 501. |
| M | 259 | 1 | T | P87S | 1 | CCA-TCA at ntd 259--> Pro-Ser at codon 87 | X-linked Charcot-Marie-Tooth disease type 1 | severe distal muscle atrophy, areflexia and foot deformity | XD | early | Janssen (1997) Hum. Genet. 99, 501. |
| M | 266 | 1 | C | L89P | 1 | CTC-CCC at ntd 266 --> Leu-Pro at codon 89 | X-linked Charcot-Marie-Tooth disease type 1 | mild distal muscle atrophy, areflexia and foot deformity | XD | early | Janssen (1997) Hum. Genet. 99, 501. |
| M | 415 | 1 | A | V139M | 1 | GTG-ATG at ntd 415 --> Val-Met at codon 139 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Janssen (1997) Hum. Genet. 99, 501. |
| M | 595 | 1 | C | G199R | 1 | GGC-CGC at ntd 595 --> Gly-Arg at codon 199 | X-linked Charcot-Marie-Tooth disease type 1 | mild distal muscle atrophy, areflexia and foot deformity | XD | early | Janssen (1997) Hum. Genet. 99, 501. |
| M | 20 | 1 | G | Y7C | 1 | TAC-TGC at ntd 20 --> Tyr-Cys at codon 7 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Schiavon (1996) Hum. Mutat. 8, 83. |
| M | 73 | 1 | T | L25F | 1 | CTC-TTC at ntd 73 --> Leu-Phe at codon 25 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Nelis (1997) Hum. Mutat. 9, 47. |
| M | 77 | 1 | T | S26L | 1 | TCG-TTG at ntd 77 --> Ser-Leu at codon 26 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Nelis (1997) Hum. Mutat. 9, 47. |
| M | 259 | 1 | G | P87A | 1 | CCA-GCA at ntd 259 --> Pro-Ala at codon 87 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Nelis (1997) Hum. Mutat. 9, 47. |
| M | 713 | 1 | A | R238H | 1 | CGC-CAC at ntd 713 --> Arg-His at codon 238 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Nelis (1997) Hum. Mutat. 9, 47. |
| N | 842 | 1 | A | S281X | 1 | TCG-TAG at ntd 842 --> Ser-Term at codon 281 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Nelis (1997) Hum. Mutat. 9, 47. |
| M | 77 | 1 | T | S26L | 1 | TCG-TTG at ntd 77 --> Ser-Leu at codon 26 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Yoshimura (1996) Hum. Mutat. 8, 270. |
| M | 158 | 1 | C | C53S | 1 | TGC-TCC at ntd 158 --> Cys-Ser at codon 53 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Yoshimura (1996) Hum. Mutat. 8, 270. |
| M | 101 | 1 | C | M34T | 1 | ATG-ACG at ntd 101 --> Met-Thr at codon 34 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Tan (1996) Hum. Mutat. 7, 167. |
| M | 224 | 1 | A | R75Q | 1 | CGG-CAG at ntd 224 --> Arg-Gln at codon 75 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Tan (1996) Hum. Mutat. 7, 167. |
| M | 319 | 1 | T | R107W | 1 | CGG-TGG at ntd 319 --> Arg-Trp at codon 107 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Tan (1996) Hum. Mutat. 7, 167. |
| N | 633 | 1 | A | Y211X | 1 | TAC-TAA at ntd 633 --> Tyr-Term at codon 211 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Tan (1996) Hum. Mutat. 7, 167. |
| M | 65 | 1 | C | R22P | 1 | CGA-CCA at ntd 65 --> Arg-Pro at codon 22 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Ressot (1996) Hum. Genet. 98, 172. |
| N | 64 | 1 | T | R22X | 1 | CGA-TGA at ntd 64 --> Arg-Term at codon 22 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Ressot (1996) Hum. Genet. 98, 172. |
| M | 64 | 1 | G | R22G | 1 | CGA-GGA at ntd 64 --> Arg-Gly at codon 22 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Ressot (1996) Hum. Genet. 98, 172. |
| N | 398 | 1 | A | W133X | 1 | TGG-TGA at ntd 398 --> Trp-Term at codon 133 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Ressot (1996) Hum. Genet. 98, 172. |
| M | 643 | 1 | T | R215W | 1 | CGG-TGG at ntd 643 --> Arg-Trp at codon 215 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Ressot (1996) Hum. Genet. 98, 172. |
| N | 64 | 1 | T | R22X | 1 | CGA-TGA at ntd 64 --> Arg-Term at codon 22 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1994) Hum. Molec. Genet. 3, 355. |
| M | 305 | 1 | G | E102G | 1 | GAG-GGG at ntd 305 --> Glu-Gly at codon 102 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1994) Hum. Molec. Genet. 3, 355. |
| M | 425 | 1 | A | R142Q | 1 | CGG-CAG at ntd 425 --> Arg-Gln at codon 142 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1994) Hum. Molec. Genet. 3, 355. |
| N | 556 | 1 | T | E186X | 1 | GAG-TAG at ntd 556 --> Glu-Term at codon 186 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1994) Hum. Molec. Genet. 3, 355. |
| N | 651 | 1 | A | C217X | 1 | TGT-TGA at ntd 651 --> Cys-Term at codon 217 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1994) Hum. Molec. Genet. 3, 355. |
| M | 112 | 1 | A | V38M | 1 | GTG-ATG at ntd 112 --> Val-Met at codon 38 | X-linked Charcot-Marie-Tooth disease type 1 | distal muscle atrophy, areflexia and foot deformity | XD | early | Orth (1994) Hum. Molec. Genet. 3, 1699. |
| M | 65 | 1 | A | R22Q | 2 | CGA-CAA at ntd 65 --> Arg-Gln at codon 22 | X-linked Charcot-Marie-Tooth disease type 2 | severe distal muscle atrophy, areflexia and foot deformity | XD | early | Silander (1997) Hum. Genet. 100, 391. |
| M | 65 | 1 | A | R22Q | 1 | CGA-CAA at ntd 65 --> Arg-Gln at codon 22 | X-linked Charcot-Marie-Tooth disease type 1 | mild distal muscle atrophy, areflexia and foot deformity | XD | early | Silander (1997) Hum. Genet. 100, 391. |
| M | 224 | 1 | A | R75Q | 1 | CGG-CAG at ntd 224 --> Arg-Gln at codon 75 | X-linked Charcot-Marie-Tooth disease type 2 | moderate distal muscle atrophy, areflexia and foot deformity | XD | early | Silander (1997) Hum. Genet. 100, 391. |
| M | 223 | 1 | T | R75W | 1 | CGG-TGG at ntd 223 --> Arg-Trp at codon 75 | X-linked Charcot-Marie-Tooth disease type unspecified | mild distal muscle atrophy, areflexia and foot deformity | XD | early | Silander (1997) Hum. Genet. 100, 391. |
| M | 319 | 1 | T | R107W | 1 | CGG-TGG at ntd 319 --> Arg-Trp at codon 107 | X-linked Charcot-Marie-Tooth disease type 2 | severe distal muscle atrophy, areflexia and foot deformity | XD | late | Silander (1997) Hum. Genet. 100, 391. |
| M | 415 | 1 | A | V139M | 1 | GTG-ATG at ntd 415 --> Val-Met at codon 139 | X-linked Charcot-Marie-Tooth disease type 2 | moderate distal muscle atrophy, areflexia and foot deformity | XD | early | Silander (1997) Hum. Genet. 100, 391. |
| M | 580 | 1 | G | M194V | 1 | ATG-GTG at ntd 580 --> Met-Val at codon 194 | X-linked Charcot-Marie-Tooth disease type 2 | severe distal muscle atrophy, areflexia and foot deformity | XD | early | Silander (1997) Hum. Genet. 100, 391. |
| PR | -528 | 1 | G | -528T->G | 1 | T-G at nucleotide -528 | X-linked Charcot-Marie-Tooth disease type 1 | moderate distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Neurology 47, 541. |
| PR | -458 | 1 | T | -458C->T | 1 | C-T at nucleotide -458 | X-linked Charcot-Marie-Tooth disease type 1 | moderate distal muscle atrophy, areflexia and foot deformity | XD | early | Ionasescu (1996) Neurology 47, 541. |