In an additional case series of 83 patients with dHMN, one patient (patient II:2 of family B) with compound heterozygous variants of c.1416+2T>C (p.V440_K472del) and c.2027C>T (p.P676L) in the MME gene were identified (Fig. 2B). Here, MME is linked to distal hereditary motor neuropathy.