%0 Journal Article
%T Clinical aspects of Emery-Dreifuss muscular dystrophy
%A Agnieszka Madej-Pilarczyk
%J Nucleus
%D 2019
%X ABSTRACT Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin-interacting proteins. This paper presents clinical aspects of EDMD in context to causative genes, genotype-phenotype correlation and its emplacement within phenotypic spectrum of skeletal muscle diseases associated with envelopathies
%U https://www.tandfonline.com/doi/full/10.1080/19491034.2018.1462635%40kncl20.2019.10.issue-SI1