Axonal Carcot–Marie–Tooth disease caused by MPZ mutations
| Mutation | Phenotype | Reference |
|---|---|---|
| Thr124Met or Asp75Val | Late onset, pupillary abnormalities, dysphagia, deafness, marked sensory disturbances | De Jonghe,15 Chapon,16 Senderek,17 Misu,18 Hanemann19 |
| Glu97Val | Pupillary abnormalities, deafness | Seeman20 |
| Asp6Tyr | Intermediate nerve conduction velocity | Mastaglia30 |
| Ser44Phe | Some patients with severe progression | Marrosu14 |
| Asp61Gly or Tyr119Cys | Late onset, some patients with severe progression | Senderek17 |
| His81Tyr and Val113Phe | Intermediate phenotype, pupillary abnormalities | Bienfait21 |
| Asp109Glu | Late onset, mild neuropathy | This study |