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. 2021 Jan 15;10(1):165. doi: 10.3390/cells10010165

Table 2.

Mutations causing different types of neuropathies.

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]