Variants from 329 genes associated with CMT, SMA, HMN, SCA, HSP and ALS were extracted, leading to the identification of a novel variant in PMP2 p.Met114Thr (c.341C > T) that co-segregated with the disease phenotype in family A (Fig. 1a, b). Here, PMP2 is linked to proximal spinal muscular atrophy.