Deletion mutation ΔLys21 and substitution mutations Arg24Cys and Lys35Asn (Nicot et al., 2007; Böhm et al., 2014) within the AH Val18-Ala36 (Hohendahl et al., 2016) of amphiphysin 2 cause CNM. The gene discussed is BIN1; the disease is centronuclear myopathy.