| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Disease | Symptom | Hereditary Pattern*2 | Onset Age | Reference |
| M | 90 | 1 | G | I30M | 1 | ATC-ATG at ntd 90 --> Ile-Met at codon 30 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Hayasaka (1993) Hum. Mol. Genet. 2, 1369. |
| M | 188 | 1 | T | S63F | 1 | TCC-TTC at ntd 188 --> Ser-Phe at codon 63 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Blanquet-Grossard (1995) Clin. Genet. 48, 281. |
| M | 233 | 1 | T | S78L | 1 | TCG-TTG at ntd 233 --> Ser-Leu at codon 78 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Nelis (1994) Hum. Genet. 94, 653. |
| M | 400 | 1 | A | D134N | 1 | GAC-AAC at ntd 400 --> Asp-Asn at codon 134 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Nelis (1994) Hum. Genet. 94, 653. |
| N | 462 | 1 | A | Y154X | 1 | TAC-TAA at ntd 462 --> Tyr-Term at codon 154 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Nelis (1994) Hum. Genet. 94, 653. |
| N | 543 | 1 | G | Y181X | 1 | TAC-TAG at ntd 543 --> Tyr-Term at codon 181 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Nelis (1994) Hum. Genet. 94, 653. |
| P | 276 | 1 | A | V/V92 | 1 | GTG-GTA at ntd 276 --> Val-Val at codon 92 | Charcot-Marie-Tooth disease type 1B | - | - | - | Nelis (1994) Hum. Genet. 94, 653. |
| P | 684 | 1 | T | S/S228 | 1 | AGC-AGT at ntd 684 --> Ser-Ser at codon 228 | Charcot-Marie-Tooth disease type 1B | - | - | - | Nelis (1994) Hum. Genet. 94, 653. |
| M | 270 | 1 | A | D90E | 1 | GAC-GAA at ntd 270 --> Asp-Glu at codon 90 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Hayasaka (1993) Nature Genet. 5, 31. |
| M | 286 | 1 | G | K96E | 1 | AAA-GAA at ntd 286 --> Lys-Glu at codon 96 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Hayasaka (1993) Nature Genet. 5, 31. |
| M | 278 | 1 | A | G93E | 1 | GGG-GAG at ntd 278 --> Gly-Glu at codon 93 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Ikegami (1997) Am. J. Med. Genet. 71, 246. |
| M | 293 | 1 | A | R98H | 1 | CGC-CAC at ntd 293--> Arg-His at codon 98 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Rouger (1996) Am. J. Hum. Genet. 58, 638. |
| M | 293 | 1 | C | R98P | 2 | CGC-CCC at ntd 293 --> Arg-Pro at codon 98 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Rouger (1996) Am. J. Hum. Genet. 58, 638. |
| M | 292 | 1 | T | R98C | 1 | CGC-TGC at ntd 292 --> Arg-Cys at codon 98 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Rouger (1996) Am. J. Hum. Genet. 58, 638. |
| M | 188 | 1 | G | S63C | 1 | TCC-TGC at ntd 188 --> Ser-Cys at codon 63 | Dejerine-Sottas syndrome | severely reduced nerve conduction velocity | AD | early | Hayasaka (1993) Nature Genet. 5, 266. |
| M | 499 | 1 | C | G167R | 1 | GGG-CGG at ntd 499 --> Gly-Arg at codon 167 | Dejerine-Sottas syndrome | severely reduced nerve conduction velocity | AD | early | Hayasaka (1993) Nature Genet. 5, 266. |
| M | 242 | 1 | G | H81R | 1 | CAC-CGC at ntd 242 --> His-Arg at codon 81 | Charcot-Marie-Tooth disease type 1B | severe distal muscle atrophy, areflexia and foot deformity | AD | early | Sorour (1997) Hum. Mutat. 9, 74. |
| M | 233 | 1 | T | S78L | 1 | TCG-TTG at ntd 233 --> Ser-Leu at codon 78 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Latour (1995) Hum. Mutat. 6, 50. |
| M | 303 | 1 | C | W101C | 1 | TGG-TGC at ntd 303 --> Trp-Cys at codon 101 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Latour (1995) Hum. Mutat. 6, 50. |
| M | 341 | 1 | C | I114T | 1 | ATA-ACA at ntd 341 --> Ile-Thr at codon 114 | Dejerine-Sottas syndrome | severely reduced nerve conduction velocity | AD | early | Warner (1997) Hum. Mutat. 10, 21. |
| M | 346 | 1 | C | N116H | 1 | AAC-CAC at ntd 346 --> Asn-His at codon 116 | Dejerine-Sottas syndrome | severely reduced nerve conduction velocity | AD | early | Warner (1997) Hum. Mutat. 10, 21. |
| M | 382 | 1 | A | D128N | 1 | GAC-AAC at ntd 382 --> Asp-Asn at codon 128 | Dejerine-Sottas syndrome | severely reduced nerve conduction velocity | AD | early | Warner (1997) Hum. Mutat. 10, 21. |
| M | 365 | 1 | G | N122S | 1 | AAT-AGT at ntd 365 --> Asn-Ser at codon 122 | Charcot-Marie-Tooth disease type 1B | areflexia, severe scoliosis and mildly reduced nerve conduction velocity | AD | late | Blanquet-Grossard (1996) Hum. Mutat. 8, 185. |
| M | 404 | 1 | C | I135T | 1 | ATA-ACA at ntd 404 --> Ile-Thr at codon 135 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Roa (1996) Hum. Mutat. 7, 36. |
| M | 409 | 1 | A | G137S | 1 | GGC-AGC at ntd 409 --> Gly-Ser at codon 137 | Charcot-Marie-Tooth disease type 1B | ankle weakness, footdrop and minor gait abnormality | AD | late | Roa (1996) Hum. Mutat. 7, 36. |
| P | 600 | 1 | A | G/G200 | 11 | GGG-GGA at ntd 600 --> Gly-Gly at codon 200 | Charcot-Marie-Tooth disease type 1B | - | - | - | Roa (1996) Hum. Mutat. 7, 36. |
| P | 684 | 1 | T | S/S228 | 10 | AGC-AGT at ntd 684 --> Ser-Ser at codon 228 | Charcot-Marie-Tooth disease type 1B | - | - | - | Roa (1996) Hum. Mutat. 7, 36. |
| M | 292 | 1 | A | R98S | 1 | CGC-AGC at ntd 292 --> Arg-Ser at codon 98 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Warner (1996) Neuron 17, 451. |
| P | 684 | 1 | T | S/S228 | 1 | AGC-AGT at ntd 684 --> Ser-Ser at codon 228 | Charcot-Marie-Tooth disease type 1B | - | - | - | Warner (1996) Neuron 17, 451. |
| M | 292 | 1 | T | R98C | 1 | CGC-TGC at ntd 292 --> Arg-Cys at codon 98 | Dejerine-Sottas syndrome | distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity | AD | early | Warner (1996) Neuron 17, 451. |
| FD | 307 | 1 | 307delA | 1 | 1-bp del of A at nucleotide 307 --> frameshift at codon 103 | Dejerine-Sottas syndrome | distal muscle atrophy and areflexia | AD | early | Warner (1996) Neuron 17, 451. | |
| FD | 522 | 4 | 522delGCTT | 1 | 4-bp del of GCTT at nucleotides 522-525 --> frameshift at codon 175 | Dejerine-Sottas syndrome | severe distal muscle atrophy, areflexia and foot deformity | AR | early | Warner (1996) Neuron 17, 451. | |
| N | 643 | 1 | T | Q215X | 1 | CAG-TAG at ntd 643 --> Gln-Term at codon 215 | Congenital hypomyelination | severely reduced nerve conduction velocity | AD | early | Warner (1996) Neuron 17, 451. |
| D | 186 | 3 | 186delCTC | 1 | 3-bp del of CTC at nucleotides 186-188 --> del of Ser at codon 63 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Kulkens (1993) Nature Genet. 5, 35. | |
| D | 190 | 3 | 190delTTC | 1 | 3-bp del of TTC at nucleotides 190-192 --> del of Phe at codon 64 | Dejerine-Sottas syndrome | distal muscle atrophy, areflexia and foot deformity | AR | early | Ikegami (1996) Biochem. Biophys. Res. Commun. 222, 107. | |
| FI | 663 | 0 | GC | 663insGC | 1 | 2-bp ins of GC at nucleotide 663 --> frameshift at codon 222 | Dejerine-Sottas syndrome | severely reduced nerve conduction velocity and sensory loss | AD | early | Rautenstrauss (1994) Hum. Mol. Genet. 3, 1701. |
| D | 697 | 4 | 697delAGTG | 1 | 4-bp del of AGTG at nucleotides 697-700 --> del of Ser and frameshift at codon 233 | Charcot-Marie-Tooth disease type 1B | severely reduced nerve conduction velocity | AD | early | Bellone (1996) Hum. Mutat. 7, 377. | |
| ID | 258 | 8 | CCTCT | 258indel8bp | 1 | ACCCTACA-CCTCT at nucleotides 258-265 --> GlnProTyrIle-HisLeuPhe at codon 86-89 | Dejerine-Sottas syndrome | distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity | AD | early | Silander (1996) Hum. Mutat. 8, 304. |
| M | 233 | 1 | T | S78L | 1 | TCG-TTG at ntd 233 --> Ser-Leu at codon 78 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Bort (1997) Hum. Genet. 99, 746. |
| M | 292 | 1 | T | R98C | 1 | CGC-TGC at ntd 292 --> Arg-Cys at codon 98 | Dejerine-Sottas syndrome | severely reduced nerve conduction velocity | AD | early | Bort (1997) Hum. Genet. 99, 746. |
| S | 449-1 | 1 | C | IVS3-1G->C | 1 | G-C at nucleotide 449-1 in intron 3 --> aberrant splicing | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Bort (1997) Hum. Genet. 99, 746. |
| FD | 554 | 1 | 554delG | 1 | 1-bp del of G at nucleotide 554 --> frameshift at codon 185 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Bort (1997) Hum. Genet. 99, 746. | |
| DU | 615 | 0 | GGGAAATTGCACAAGCC | 615dup17bp | 1 | 17-bp dup of GGGAAATTGCACAAGCC at nucleotide 615 --> frameshift at codon 205 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Bort (1997) Hum. Genet. 99, 746. |
| P | 600 | 1 | A | G/G200 | 1 | GGG-GGA at ntd 600 --> Gly-Gly at codon 200 | Charcot-Marie-Tooth disease type 1B | - | - | - | Bort (1997) Hum. Genet. 99, 746. |
| P | 684 | 1 | T | S/S228 | 1 | AGC-AGT at ntd 684 --> Ser-Ser at codon 228 | Charcot-Marie-Tooth disease type 1B | - | - | - | Bort (1997) Hum. Genet. 99, 746. |
| P | 731 | 1 | T | R/L244 | 1 | CGC-CTC at ntd 731 --> Arg-Leu at codon 244 | Charcot-Marie-Tooth disease type 1B | - | - | - | Bort (1997) Hum. Genet. 99, 746. |
| M | 291 | 1 | T | R98C | 1 | CGC-TGC at ntd 291 --> Arg-Cys at codon 98 | Dejerine-Sottas syndrome | distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity | AD | early | Komiyama (1997) J. Neurol. Sci. 149, 103. |
| M | 101 | 1 | G | T34I | 1 | ACC-AUC at ntd 101 --> Thr-Ile at codon 34 | Dejerine-Sottas syndrome | distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity | AD | late | Gabreels-Festen (1996) Neurology 47, 761. |
| M | 292 | 1 | T | R98C | 1 | CGC-TGC at ntd 292 --> Arg-Cys at codon 98 | Dejerine-Sottas syndrome | distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity | AD | early | Gabreels-Festen (1996) Neurology 47, 761. |
| M | 293 | 1 | A | R98H | 1 | CGC-CAC at ntd 293 --> Arg-His at codon 98 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Gabreels-Festen (1996) Neurology 47, 761. |
| M | 389 | 1 | G | K130R | 2 | AAA-AGA at ntd 389 --> Lys-Arg at codon 130 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Gabreels-Festen (1996) Neurology 47, 761. |
| M | 403 | 1 | C | I135L | 1 | ATA-CTA at ntd 403 --> Ile -Leu at codon 135 | Dejerine-Sottas syndrome | distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity | AD | early | Gabreels-Festen (1996) Neurology 47, 761. |
| M | 245 | 1 | G | Y82C | 1 | TAT-TGT at ntd 245 --> Tyr-Cys at codon 82 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Himoro (1993) Biochem. Mol. Biol. Int. 31, 169. |
| M | 402 | 1 | A | D134E | 1 | GAC-GAA at ntd 402 --> Asp-Glu at codon 134 | Charcot-Marie-Tooth disease type 1B | distal muscle atrophy, areflexia and foot deformity | AD | early | Nelis (1994) J. Med. Genet. 31, 811. |
| P | 216 | 1 | G | 216A/G | 2 | polymorphism at ntd 216 | Charcot-Marie-Tooth disease type 1B | - | - | - | Hayasaka (1993) Nature Genet. 5, 31. |
| P | 216 | 1 | G | 216A/G | 1 | polymorphism at ntd 216 | Charcot-Marie-Tooth disease type 1B | - | - | - | Hayasaka (1993) Hum. Mol. Genet. 2, 1369. |