## 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
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
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## 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)
## 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