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
A novel GJB1 mutation in an Italian patient with Charcot–Marie–Tooth disease and pyramidal signs
✍ Scribed by Marco Luigetti; Gian Maria Fabrizi; Federico Ranieri; Federica Taioli; Amelia Conte; Alessandra Del Grande; Mario Sabatelli
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 101 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0148-639X
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Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder and is traditionally classified into two major types, CMT type 1 (CMT1) and CMT type 2 (CMT2). Most CMT1 patients are associated with the duplication of 17p11.2-p12 (CMT1A duplication) and small numbers of patients have mutations of the p
## 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)