𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel deletion mutation in GJB1 causes X-linked Charcot–Marie–Tooth disease in a Han Chinese family

✍ Scribed by Pengfei Lin; Fei Mao; Qiji Liu; Wanling Yang; Changshun Shao; Chuanzhu Yan; Yaoqin Gong


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
633 KB
Volume
42
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutation in connexin 32 causes charcot–m
✍ Fuqiang Guo; Yi Shi; Ying Lin; Xiaoqi Liu; Bin Liu; Ying Liu; Yang Yang; Fang Lu 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 475 KB

## Abstract The purpose was to study the clinical features and genetics of a large Chinese family with Charcot–Marie–Tooth (CMT) disease. A genome‐wide linkage scan using Applied Biosystems v. 2.5 411 short tandem repeat (STR) markers was performed in this family. Mutation screening was conducted o

X-linked Charcot–Marie–Tooth disease: Ph
✍ Petr Vondracek; Pavel Seeman; Marketa Hermanova; Lenka Fajkusova 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 74 KB

## Abstract We report a family with X‐linked dominant Charcot–Marie–Tooth disease (CMTX1). Three affected family members are described, who underwent detailed clinical, electrophysiological, molecular genetic, and histopathological studies. A novel isoleucine at position 127 with serine (Ile127Ser)

A novel mutation of gap junction protein
✍ Sheng Dong Chen; Zheng Xi Li; Yang Tai Guan; Xia Jun Zhou; Jian Ming Jiang; Yong 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 287 KB

## Abstract Introduction: In this study we report a novel mutation in the gap junction protein beta 1 (__GJB1__) gene of a Chinese X‐linked Charcot–Marie–Tooth disease (CMTX1) family, which has specific electrophysiological characteristics. Methods: Twenty members in the family were studied by clin