Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review

• Main Authors: Xiufang He (Author), Xuandi Li (Author), Yuese Lin (Author), Hongjun Ba (Author), Huimin Peng (Author), Lili Zhang (Author), Ling Zhu (Author), Youzhen Qin (Author), Shujuan Li (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundPompe disease is usually considered in children with elevated creatine kinase (CK) levels and decreased acidic α-glucosidase (GAA) enzyme activity. However, there are exceptions, such as GAA pseudo deficiency alleles, which result in lower GAA enzyme activity but do not cause Pompe disease...