Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contractures, muscular dystrophy, and cardiac involvement with conduction defects and arrhythmias. So far, only 35% of EDMD cases are genetically elucidated and associated with EMD or LMNA gene mutations, sugges...

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Autori principali: Gueneau, Lucie, Bertrand, Anne T., Jais, Jean-Philippe, Salih, Mustafa A., Stojkovic, Tanya, Wehnert, Manfred, Hoeltzenbein, Maria, Spuler, Simone, Saitoh, Shinji, Verschueren, Annie, Tranchant, Christine, Beuvin, Maud, Lacene, Emmanuelle, Romero, Norma B., Heath, Simon, Zelenika, Diana, Voit, Thomas, Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2009
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2771595/
https://ncbi.nlm.nih.gov/pubmed/19716112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.07.015
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