Emery-Dreifuss muscular dystrophy: focal point nuclear envelope.

ABSTRACT:

Purpose of review

Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in EMD encoding emerin and LMNA encoding A-type lamins, proteins of the nuclear envelope. In the past decade, there has been an extraordinary burst of research on the nuclear envelope. Discoveries resulting from this basic research have implications for better understanding the pathogenesis and developing treatments for EDMD.

Recent findings

Recent clinical research has confirmed that EDMD is one of several overlapping skeletal muscle phenotypes that can result from mutations in EMD and LMNA with dilated cardiomyopathy as a common feature. Basic research on the nuclear envelope has provided new insights into how A-type lamins and emerin function in force transmission throughout the cell, which

SUBMITTER: Muchir A 

PROVIDER: S-EPMC7550203 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature