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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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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