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Clinical aspects of Emery-Dreifuss muscular dystrophy

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 nuc...

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Detalles Bibliográficos
Autor principal: Madej-Pilarczyk, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973255/
https://www.ncbi.nlm.nih.gov/pubmed/29633897
http://dx.doi.org/10.1080/19491034.2018.1462635