The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.
The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.
复制标题
DOI：
10.1016/j.ymgmr.2016.02.003
复制
发表时间：
2016-03
影响因子：
1.9
通讯作者：
Prasad C
中科院分区：
文献类型：
--
作者：
Keilland E;Rupar CA;Prasad AN;Tay KY;Downie A;Prasad C
MT-TL 1基因m.3291T > C突变很少与线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）相关，但从临床角度来看，其特征仍然很差。在下面的报告中，我们详细描述了一个白人家族的表型特征，长期随访（> 7年）和管理由于m.3291T > C突变的MELAS，并回顾了文献中的m.3291T > C突变。先证者的临床表型包括MELAS、MERRF（肌阵挛性癫痫和破碎红纤维综合征）、MNGIE（线粒体神经胃肠脑病）、KSS（Kearns-Sayre综合征）和CPEO（慢性进行性眼外肌麻痹）的重叠特征。
m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with MELAS due to the m.3291T > C mutation and review the literature on m.3291T > C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome), MNGIE (Mitochondrial neurogastrointestinal encephalopathy), KSS (Kearns-Sayre Syndrome) and CPEO (Chronic progressive external ophthalmoplegia).