SYNE1 and Emery-Dreifuss muscular dystrophy: Biallelic, loss-of-function SYNE1 variants in the calponin homology and KASH domains have been implicated in AR spinocerebellar ataxia-8 (MIM#610743) and arthrogryposis syndrome arthrogryposis multiplex congenita 3, myogenic type (MIM#618484), whereas rare missense and rare truncating SYNE1 variants within the spectrin repeat domain have been implicated in an autosomal dominant form of Emery-Dreifuss muscular dystrophy (MIM#612998) (34, 35).