Emery-Dreifuss muscular dystrophy
Definition:
References:
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[1]. Alan E H Emery, et al. The muscular dystrophies. Lancet. 2002 Feb 23;359(9307):687-95. [Content Brief]
[2]. Lucie Gueneau, et al. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2009 Sep;85(3):338-53. [Content Brief]
[3]. M Raffaele Di Barletta, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2000 Apr;66(4):1407-12. [Content Brief]
[4]. Qiuping Zhang, et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet. 2007 Dec 1;16(23):2816-33. [Content Brief]
[5]. S Bione, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994 Dec;8(4):323-7. [Content Brief]
[6]. Wen-Chen Liang, et al. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann Neurol. 2011 Jun;69(6):1005-13. [Content Brief]
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