Article
PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1.
Muscle & nerve - 1 Jul 2015
Zhan Yajing, Zi Xiaohong, Hu Zhengmao, Peng Ying, Wu Lingqian, Li Xiaobo, Jiang Mingming, Liu Lei, Xie Yongzhi, Xia Kun, Tang Beisha, Zhang Ruxu
Abstract excerpt
INTRODUCTION: Most cases of Charcot-Marie-Tooth (CMT) disease are caused by mutations in the peripheral myelin protein 22 gene (PMP22), including heterozygous duplications (CMT1A), deletions (HNPP), and point mutations (CMT1E). METHODS: Single-nucleotide polymorphism (SNP) arrays were used to study PMP22 mutations based on the results of multiplex ligation-dependent probe amplification (MLPA) and polymerase chain...
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