Article
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
BMC medical genetics - 20 Dec 2014
Liu Xiao, Wang Zhaoxia, Jin Weina, Lv He, Zhang Wei, Que Chengli, Huang Yu, Yuan Yun
Abstract excerpt
BACKGROUND: Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene. The GAA mutation pattern in mainland Chinese patients with late-onset Pompe disease is still not well understood. METHODS: We presented the clinical and genetic characteristics of 27 mainland...
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