[Emery-Dreifuss muscular dystrophy].

Abstract excerpt

Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder characterized by the triad of progressive weakness in humero-peroneal muscles, early onset contractures and cardiomyopathy with conduction block that shows a high risk of sudden death. In 1994, the gene responsible for X-linked EDMD has been identified to Xq28 (designated as STA), that encodes a serine-rich protein of 254 amino acids,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiomyopathies
• Share to Death, Sudden, Cardiac
• Share to Genes, Recessive