CHARCOT-MARIE-TOOTH DISEASE TYPE 1A - MUTATIONAL MECHANISMS AND CANDIDATE GENE

被引：7
|
作者：
PATEL, PI [1 ]
机构：
[1] BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA
来源：
CURRENT OPINION IN GENETICS & DEVELOPMENT | 1993年 / 3卷 / 03期
基金：
美国国家卫生研究院;
关键词：
D O I：
10.1016/0959-437X(93)90118-9
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
Charcot-Marie-Tooth disease type 1A, the most common inherited peripheral neuropathy, is associated with a submicroscopic DNA duplication of 1.5 Mb that can arise de novo, and which is flanked by a >17 kb mosaic repeat. The PMP22 gene, encoding a peripheral myelin protein, maps within the duplication. In a subset of Charcot-Marie-Tooth patients, point mutations can occur within the gene. Thus, the alternative mechanisms of overexpression of PMP22 and structural alterations in the protein encoded can cause the disease phenotype.
引用
收藏
页码：438 / 444
页数：7
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