| 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 | 36 | 1 | A | H12Q | 1 | CAC-CAA --> His-Gln at codon 12 | Dejerine-Sottas syndrome | areflexia and severely reduced nerve conduction velocity | AD | early | Valentijn (1995) Hum. Mutat. 5, 76. |
| M | 47 | 1 | C | L16P | 1 | CTG-CCG --> Leu-Pro at codon 16 | Charcot-Marie-Tooth disease type 1A | distal muscle atrophy, areflexia and foot deformity | AD | early | Valentijn (1992) Nature Genet. 2, 288. |
| M | 206 | 1 | A | M69K | 1 | ATG-AAG --> Met-Lys at codon 69 | Dejerine-Sottas syndrome | distal muscle atrophy, foot deformity and severely reduced nerve conduction velocity | AD | early | Roa (1993) Nature Genet. 5, 269. |
| M | 215 | 1 | T | S72L | 1 | TCG-TTG --> Ser-Leu at codon 72 | Dejerine-Sottas syndrome | distal muscle atrophy and areflexia | AD | early | Roa (1993) Nature Genet. 5, 269. |
| S | 448+1 | 1 | A | IVS3+1G->A | 1 | G-A at nucleotide 448+1 in intron 3 --> aberrant splicing | Charcot-Marie-Tooth disease type 1A | distal muscle atrophy and reduced nerve conduction velocity | AD | early | Nelis (1994) Hum. Mol. Genet. 3, 515. |
| M | 236 | 1 | G | S79C | 1 | TCT-TGT --> Ser-Cys at codon 79 | Charcot-Marie-Tooth disease type 1A | distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity | AD | early | Roa (1993) N. Engl. J. Med. 329, 96. |
| M | 353 | 1 | T | T118M | 2 | ACG-ATG --> Thr-Met at codon 118 | Charcot-Marie-Tooth disease type 1A | severe distal muscle atrophy, areflexia and foot deformity | AR | late | Roa (1993) Nature Genet. 5, 189. |
| M | 440 | 1 | G | L147R | 1 | CTT-CGT --> Leu-Arg at codon 147 | Charcot-Marie-Tooth disease type 1A | distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity | AD | early | Navon (1996) Hum. Genet. 97, 685. |
| M | 320 | 1 | T | G107V | 1 | GGT-GTT --> Gly-Val at codon 107 | Charcot-Marie-Tooth disease type 1A | severe distal muscle atrophy | AD | early | Marrosu (1997) Neurology 48, 489. |
| FD | 19 | 2 | 19delAG | 1 | 2-bp del of AG at nucleotides 19-20 --> frameshift at codon 7 | Hereditary neuropathy with liability to pressure palsies | recurrent transient muscle palsies and paresthesias, hyporeflexia and foot deformity | AD | early | Nicholson (1994) Nature Genet. 6, 263. | |
| FI | 282 | 0 | G | 282insG | 1 | 1-bp ins of G at nucleotide 282 --> frameshift at codon 95 | Hereditary neuropathy with liability to pressure palsies | recurrent transient muscle palsies and paresthesias, hyporeflexia and foot deformity | AD | early | Young (1997) Neurology 48, 450. |
| M | 298 | 1 | A | G100R | 1 | GGA-AGA --> Gly-Arg at codon 100 | Dejerine-Sottas syndrome | severely reduced nerve conduction velocity | AD | early | Bort (1997) Hum. Genet. 99, 746. |
| S | 34+1 | 1 | T | IVS1+1G->T | 1 | G-T at nucleotide 34+1 in intron1 --> aberrant splicing | Charcot-Marie-Tooth disease type 1A | recurrent transient muscle palsies and paresthesias, hyporeflexia and foot deformity | AD | early | Bort (1997) Hum. Genet. 99, 746. |
| FD | 281 | 1 | 281delG | 1 | 1-bp del of G at nucleotide 281 --> frameshift at codon 94 | Charcot-Marie-Tooth disease type 1A | severe distal muscle atrophy, areflexia and foot deformity | AD | early | Ionasescu (1997) Muscle Nerve 20, 1308. |