We examined CMT1A duplication of 17p11.2-p12, mutations of PMP22, MPZ (P0), GJB1 (Cx32), EGR2 and NEFL genes in 57 Korean families with patients diagnosed as having Charcot-Marie-Tooth (CMT) disease. The CMT1A duplication was present in 53.6% of 28 CMT type 1 patients. In the 42 CMT families without
Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients
β Scribed by Milica Keckarevic-Markovic; Vedrana Milic-Rasic; Jelena Mladenovic; Jelena Dackovic; Miljana Kecmanovic; Dusan Keckarevic; Dusanka Savic-Pavicevic; Stanka Romac
- Book ID
- 109116295
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 640 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1085-9489
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π SIMILAR VOLUMES
In the original published version of this article, the authors misdesignated a GJB1 mutation. The c.408T>C (p.Val136Ala) mutation should be written to c.407T>C (p.Val136Ala
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