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Genetic spectrum of 277 cases with pathogenic variants. (a) The following genes are indicated: PMP22 dup (n = 134); PMP22 del (n = 40); GJB1 (n = 35); MFN2 (n = 14); MPZ causing demyelinating neuropathy (n = 11); MPZ causing axonal neuropathy (n = 8); HSPB1 (n = 9). (b) Other less frequent genes.
