Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
作者： Gisèle Bonne , Marina Raffaele Di Barletta , Shaida Varnous , Henri-Marc Bécane , El-Hadi Hammouda
DOI: 10.1038/6799
关键词: Emerin 、 LMNA 、 Muscular dystrophy 、 Emery–Dreifuss muscular dystrophy 、 Lamin 、 Muscle disorder 、 Biology 、 Laminopathy 、 Genetics 、 Nonsense mutation
摘要: … Mutations in EMD, the gene encoding emerin, are responsible for the X-linked form 5,6 . We … This region contains the lamin A/C gene (LMNA), a candidate gene encoding two proteins of …
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