两名患有线粒体神经胃肠性脑肌病（MNGIE）的墨西哥兄弟，其ECGF1基因存在一种新突变。
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene.
作者信息
Monroy Nancy, Macías Kauffer Luis R, Mutchinick Osvaldo M
机构信息
Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Vasco de Quiroga 15, Sección XVI, 14000 Mexico City, Mexico.
出版信息
Eur J Med Genet. 2008 May-Jun;51(3):245-50. doi: 10.1016/j.ejmg.2007.12.007. Epub 2008 Jan 9.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by mutations in the thymidine phosphorylase gene located on chromosome 22q13.32-ter, causing defective functioning of the enzyme. At present 87 sporadic or familial cases have been reported and 52 different mutations identified. We present herein the clinical, neuromuscular and molecular findings of two affected brothers from an indigenous Mexican family living in a very small village not far from Mexico City, both brothers being homozygous for a novel mutation (Leu133Pro) in exon 3 of the ECGF1 gene.
线粒体神经胃肠性脑肌病（MNGIE）是一种罕见的常染色体隐性疾病，由位于22q13.32-末端的胸苷磷酸化酶基因突变引起，导致该酶功能缺陷。目前已报道87例散发性或家族性病例，并鉴定出52种不同突变。本文展示了来自墨西哥一个原住民家庭的两名患病兄弟的临床、神经肌肉和分子学检查结果，这两名兄弟均为ECGF1基因第3外显子的一种新突变（Leu133Pro）的纯合子，该家庭居住在离墨西哥城不远的一个小村庄。
Zotero 插件