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Article

Clinical aspects of Emery-Dreifuss muscular dystrophy.

Nucleus (Austin, Tex.) - 1 Jan 2018

Madej-Pilarczyk Agnieszka

Abstract excerpt

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...

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Identifiers

PMID: 29633897
DOI: 10.1080/19491034.2018.1462635
PMCID: PMC5973255

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