MECP2 mutations account for most cases of typical forms of Rett syndrome
MECP2 mutations account for most cases of typical forms of Rett syndrome
复制标题
DOI：
10.1093/hmg/9.9.1377
复制
发表时间：
2000-05-22
影响因子：
3.5
通讯作者：
Chelly, J
中科院分区：
文献类型：
--
作者：
Bienvenu, T;Carrié, A;Chelly, J
Rett综合征（RTT）是一种严重的进行性神经系统疾病，几乎完全影响女性，估计患病率约为1 / 10 000-15 000名女婴。大多数病例是散发性的，但一些关于家族性复发的报告支持x连锁显性遗传与男性致死率。最近通过候选基因策略发现了导致这种疾病的基因MECP2。在
Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females, with an estimated prevalence of approximately one in 10 000-15 000 female births. Most cases are sporadic, but several reports about familial recurrence support X-linked dominant inheritance with male lethality. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in