Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant (EDMD4)

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant, also known as emery-dreifuss muscular dystrophy 4 with variable features, is related to arthrogryposis multiplex congenita 3, myogenic type and x-linked emery-dreifuss muscular dystrophy. An important gene associated with Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1), and among its related pathways/superpathways are Meiosis and Envelope proteins and their potential roles in EDMD physiopathology. Affiliated tissues include skeletal muscle and heart, and related phenotypes are elevated circulating creatine kinase concentration and muscular dystrophy