Clinical aspects of Emery-Dreifuss muscular dystrophy. (1st January 2018)

• Record Type: Journal Article
• Authors: Madej-Pilarczyk, Agnieszka
• Is Part Of: Nucleus. Volume 9:Number 1(2018)
• Page Start: 268
• Page End: 274
• Publication Date: 2018-01-01
• Subjects: Emery-Dreifuss muscular dystrophy -- lamin A/C -- emerin -- laminopathy -- cardiomyopathy; Cell nuclei -- Periodicals; Biology -- Periodicals; Biology; Cell nuclei; Periodicals; 571.6605
• DOI: 10.1080/19491034.2018.1462635
• Languages: English
• ISSNs: 1949-1034

Abstract

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.