Ontology highlight
ABSTRACT:
SUBMITTER: Liu X
PROVIDER: S-EPMC4411720 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Liu Xiao X Wang Zhaoxia Z Jin Weina W Lv He H Zhang Wei W Que Chengli C Huang Yu Y Yuan Yun Y
BMC medical genetics 20141220
<h4>Background</h4>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.<h4>Methods</h4>We presented the clinical and genetic characteristics of 27 mainland Chinese late-onset Pompe patients from 24 families.<h4>Results</h4>GAA ...[more]