Mutation analysis of novel candidate genes for X-linked Charcot Marie Tooth (CMTX3) neuropathy.

我们的目标是通过鉴定导致X连锁形式的Charcot Marie Tooth神经病(CMTX3)的基因突变来探索周围神经是如何退化的。利用生物信息学资源和最先进的基因突变扫描，我们将完成该地区候选基因和新转录本的表征和系统筛选。该基因的发现将提供一种手段，以确定导致轴突变性的机制，并导致有针对性的治疗策略。

Our goal is to explore how peripheral nerves degenerate by identifying the gene mutation causing an X linked form of Charcot Marie Tooth neuropathy (CMTX3). Using bioinformatic resources and state of the art gene mutation scanning we will complete characterisation and systematic screening of candidate genes and novel transcripts in the region. Discovery of this gene will provide a means to determine mechanisms causing axonal degeneration and lead to targeted therapeutic treatment strategies.