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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2009
Gaiak:
Article
Sarrera elektronikoa: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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