TY - JOUR AU - Liu, Xiao AU - Wang, Zhaoxia AU - Jin, Weina AU - Lv, He AU - Zhang, Wei AU - Que, Chengli AU - Huang, Yu AU - Yuan, Yun PY - 2014 DA - 2014/12/20 TI - Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation JO - BMC Medical Genetics SP - 141 VL - 15 IS - 1 AB - 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. SN - 1471-2350 UR - https://doi.org/10.1186/s12881-014-0141-2 DO - 10.1186/s12881-014-0141-2 ID - Liu2014 ER -