Article
A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.
The International journal of neuroscience - 1 May 2017
Ge Wei, Wei Bin, Zhu Hao, Miao Zhigang, Zhang Weimin, Leng Cuihua, Li Jizhen, Zhang Dan, Sun Miao, Xu Xingshun
Abstract excerpt
PURPOSE: Fabry disease is an X-linked genetic disorder caused by the mutations of α-galactosidase A (GLA, MIM 300644) gene presenting with various clinical symptoms including small-fiber peripheral neuropathy and limb burning pain. Here, we reported a Chinese pedigree with the initial diagnosis of primary erythromelalgia in an autosomal dominant (AD)-inherited pattern. METHODS: Mutation analysis of SCN9A and GLA...
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