Emery-Dreifuss muscular dystrophy

Definition

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humeroperoneal distribution that later extends to the scapular and pelvic girdle muscles, and cardiac involvement that usually occurs after the second decade of life. So far, five genes, EMD (emerin), LMNA, SYNE (nesprin)1, SYNE2 and FHL1, have been associated to EDMD phenotypes, that can be inherited following an X-linked, autosomal dominant or autosomal recessive pattern of inheritance. Most of genes known to be associated with EDMD are critical for nuclear envelope integrity.

References:

[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]

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。

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