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Emery–Dreifuss muscular dystrophy: a test case for precision medicine

Emery–Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy. Although there is a defining group of clinical findings, the proteins responsible and...

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Detalles Bibliográficos
Autores principales: Pillers, De-Ann M, Von Bergen, Nicholas H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771400/
https://www.ncbi.nlm.nih.gov/pubmed/26966385
http://dx.doi.org/10.2147/TACG.S75028