EDMD and other muscular diseases linked to the nuclear envelope

Emery-Dreifuss muscular dystrophy (EDMD) is a genetically variable neuromuscular disease that has so far been linked to eight nuclear envelope (NE) proteins. We identified several novel EDMD alleles in NE transmembrane proteins involved in genome organisation using a two-step sequencing approach. Our sequencing approach also revealed a clinical overlap to other inherited muscular diseases raising questions if diagnostics should be done based on the clinical manifestation or the gene mutated.