%0 Journal Article
%T Clinical aspects of Emery-Dreifuss muscular dystrophy
%A Agnieszka Madej-Pilarczyk
%J Archive of "Nucleus".
%D 2018
%R 10.1080/19491034.2018.1462635
%X 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
%K Emery-Dreifuss muscular dystrophy
%K lamin A/C
%K emerin
%K laminopathy
%K cardiomyopathy
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973255/