Table 2.
Neuropathy | Mutations | References |
---|---|---|
Congenital distal spinal motor neuropathy | G20R, P97R, R232C, R269C, R269H, R315W, R316C | [123,136,142,145,149,150] |
Scapuloperoneal spinal muscular atrophy | A217S, R232C, R269C, R269H, E278K, R315W, R316C, V620I | [47,124,125,131,141,142,144,145,147,148] |
Charcot–Marie–Tooth disease type 2C | R186Q, E218K, R232H, R232C, R269C, R269H, N302Y, R315W, R316C, R316H, Y567X, T701I, P799R, P799Lfs63X | [124,131,135,136,137,140,142,144,145,147,148,151] |