Mutational analysis of PMP22, MPZ, GJB1,
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Byung-Ok Choi; Mi Sun Lee; Sang Hee Shin; Jung Hee Hwang; Kyoung-Gyu Choi; Won-K
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Article
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2004
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John Wiley and Sons
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English
⚖ 55 KB
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