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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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Autors principals: | , , , , , , , , , , , , , , , , , , , |
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Format: | Artigo |
Idioma: | Inglês |
Publicat: |
Elsevier
2009
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Matèries: | |
Accés en línia: | 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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