Ontology highlight
ABSTRACT:
SUBMITTER: Brull A
PROVIDER: S-EPMC6218675 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Frontiers in physiology 20181030
Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition characterized by early contractures, skeletal muscle weakness, and cardiomyopathy. During the last 20 years, various genetic approaches led to the identification of causal genes of EDMD and related disorders, all encoding nuclear envelope proteins. By their respective localization either at the inner nuclear membrane or the outer nuclear membrane, these proteins interact with each other and establish a connection between the nucleus ...[more]