MUTATION OF THE MYELIN PO GENE IN CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1B

被引：93

作者：

HAYASAKA, K ^{[1
]}

TAKADA, G ^{[1
]}

IONASESCU, VV ^{[1
]}

机构：

[1] UNIV IOWA HOSP & CLIN,DEPT PEDIAT,DIV MED GENET,IOWA CITY,IA 52242

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 09期

关键词：

D O I：

10.1093/hmg/2.9.1369

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We had previously reported that the mutations of the myelin Po gene were completely linked with Charcot - Marie - Tooth neuropathy type 1B (CMT1B) in two families. In this study we found a different mutation in another family with CMT1B. The mutation, a methionine substitution for isoleucine at amino acid position 30, is located in the extracellular domain, which constitutes an immunoglobulin domain responsible for the function of Po as an adhesion molecule. The results confirmed that Po is a gene responsible for CMT1B.

引用

页码：1369 / 1372

页数：4

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