Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-onset contractures, progressive weakness in humeroperoneal muscles, and cardiomyopathy with conduction block. The disease was described for the first time as an X-linked muscular dystrophy, but autoso...

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Detalhes bibliográficos
Main Authors: Raffaele di Barletta, Marina, Ricci, Enzo, Galluzzi, Giuliana, Tonali, Pietro, Mora, Marina, Morandi, Lucia, Romorini, Alessandro, Voit, Thomas, Orstavik, Karen Helene, Merlini, Luciano, Trevisan, Carlo, Biancalana, Valerie, Housmanowa-Petrusewicz, Irena, Bione, Silvia, Ricotti, Roberta, Schwartz, Ketty, Bonne, Giselle, Toniolo, Daniela
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2000
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288205/
https://ncbi.nlm.nih.gov/pubmed/10739764
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