๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

โœ Scribed by Paola Mandich; Marina Grandis; Alessandro Geroldi; Massimo Acquaviva; Alessandra Varese; Rossella Gulli; Paola Ciotti; Emilia Bellone


Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
166 KB
Volume
53
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


A novel mutation of gap junction protein
โœ Sheng Dong Chen; Zheng Xi Li; Yang Tai Guan; Xia Jun Zhou; Jian Ming Jiang; Yong ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 287 KB

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

Novel mutations in the Charcot-Marie-Too
โœ Kathrin Huehne; Vladimir Benes; Christian Thiel; Cornelia Kraus; Wolfram Kress; ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 28 KB

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. CMT type 1 is most frequently caused by a 1.4 Mb tandem duplication in chromosome 17p11.2 comprising the peripheral myelin protein 22 (PMP22) gene. Furthermore sequence variatio