A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease
✍ Scribed by Sinéad M. Murphy; James Polke; Hadi Manji; Julian Blake; Lilla Reiniger; Mary Sweeney; Henry Houlden; Sebastian Brandner; Mary M. Reilly
- Book ID
- 109116385
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 657 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1085-9489
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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)
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