IGHMBP2 and Spinal muscular atrophy with respiratory distress type 1: Mutations in this gene have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth disease type 2S (CMT2S).<h4>Methods</h4>We conducted a systematic literature search using the PubMed database to identify studies published up to April 1st, 2023, that investigated the association between <i>IGHMBP2</i> mutations and SMARD1 or CMT2S.