肌营养不良
生物
埃默林
遗传学
遗传异质性
基因
Xq28型
肌病
突变
肌肉挛缩
X染色体
表型
解剖
核蛋白
转录因子
作者
Silvia Blone,Kersten M. Small,Veronica M.A. Aksmanovic,Michele D’Urso,Alfredo Ciccodicola,Luciano Merlini,Lucia Morandi,Wolfram Kreß,John R.W. Yates,Steve T. Warren,Daniela Toniolo
标识
DOI:10.1093/hmg/4.10.1859
摘要
The Emery-Dreifuss Muscular Dystrophy (EDMD) is an X-linked recessive muscular disorder characte ized by early contractures of the elbows, Achilles tendons and postcervical muscles, slowly progressing muscle wasting and weakness and a cardio myopathy characterized by conduction defects. Heart block is a frequent cause of death. Finding of mutations in one of the transcripts in the critical region in distal Xq28 led to the identification of the gene responsible for the disease. We now report the sequence of the gene which is 2100 bp long and the development of a set of primers to amplify and sequence the gene from patients' DNA. Eight unrelated X-linked familial cases were studied and they all carried different mutations, showing that lack of emerin in cardiac and skeletal muscle is the cause of the X-linked disease. No mutations were found in a family where the female carrier was affected nor in a sporadic case with a well established diagnosis of EDMD. Our findings suggest genetic heterogeneity of EDMD, and that at least two genes, the X-iinked STA gene and one unidentified autosomal gene, are responsible for the disease.
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