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  • Title: Clinical aspects of Emery-Dreifuss muscular dystrophy.
    Author: Madej-Pilarczyk A.
    Journal: Nucleus; 2018 Jan 01; 9(1):268-274. PubMed ID: 29633897.
    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.
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