Clinical aspects of Emery-Dreifuss muscular dystrophy
Open Access
- 25 April 2018
- journal article
- research article
- Published by Informa UK Limited in Nucleus
- Vol. 9 (1), 314-320
- https://doi.org/10.1080/19491034.2018.1462635
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.Keywords
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