SYNE1 and neuromuscular disease: Mutations in SYNE1 cause neuromuscular diseases, including spinocerebellar ataxia 8 (44, 45), Emery-Dreifuss muscular dystrophy 4 (46), and arthrogryposis multiplex congenita 3 (47), and there is a report that the variants on SYNE1 are involved in skeletal muscle disorder and cardiomyopathy (46).