Pathogenic variants in the IGHMBP2 gene are associated with two distinct autosomal recessive neuromuscular disorders: spinal muscular atrophy with respiratory distress type 1 (SMARD1; OMIM #604320) and Charcot–Marie–Tooth type 2S (CMT2S; OMIM #616155). Here, IGHMBP2 is linked to Charcot-Marie-Tooth disease axonal type 2S.