X-linked Charcot–Marie–Tooth disease type 6 (CMTX6) is an extremely rare condition associated with mutations in the PDK3 gene. To date, only three families from different countries have been reported (Australia, South Korea, and Germany). In this study, we sought to provide a comprehensive clinical and electrophysiological characterization of two Brazilian families.

中文翻译：

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揭示 CMTX6 的临床和电生理学特征：来自两个巴西家庭的见解

X 连锁腓骨肌萎缩症 6 型 (CMTX6) 是一种与 PDK3 基因突变相关的极其罕见的疾病。迄今为止，仅报告了来自不同国家的三个家庭（澳大利亚、韩国和德国）。在这项研究中，我们试图提供两个巴西家庭的全面临床和电生理特征。