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
Erratum: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients
β Scribed by Byung-Ok Choi; Mi Sun Lee; Sang Hee Shin; Jung Hee Hwang; Kyoung-Gyu Choi; Won-Ki Kim; Il Nam Sunwoo; Nam Keun Kim; Ki Wha Chung
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 16 KB
- Volume
- 24
- Category
- Article
- ISSN
- 1059-7794
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β¦ Synopsis
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
π SIMILAR VOLUMES
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
## Communicated by Mark Paalman Charcot-Marie-Tooth disease (CMT) and related inherited peripheral neuropathies, including Dejerine-Sottas syndrome, congenital hypomyelination, and hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three myelin genes: PMP22,
The authors wish to correct a mistake which occurred in the reporting of one of the mutations. The mutation in Cx32 Met34Lys is wrongly described as 100A>G. The correct description of the mutation should be 101T>A (Met34Lys).