Multiple nesprin mutations have been identified in Emery Dreifuss Muscular Dystrophy (EDMD), Dilated Cardiomyopathies (DCM), autosomal recessive arthrogryposis (ARA) and autosomal recessive cerebellar ataxia (ARCA1) [15], [17], [18], [50], [51]. This evidence concerns the gene SYNE1 and Emery-Dreifuss muscular dystrophy.