A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology.
作者： Shohei Fujimoto , Yasuhiro Manabe , Daiki Fujii , Yuko Kozai , Kosuke Matsuzono
DOI: 10.2169/INTERNALMEDICINE.52.0311
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摘要: We herein report a novel compound heterozygous mutation of the acid α-glucosidase (GAA) gene in 23-year-old man with adult-onset Pompe disease. The patient was admitted for respiratory failure and highly elevated serum level creatine kinase (CK). His muscle pathology did not show typical vacuolated fibers; however, globular inclusion bodies phosphatase (ACP) activity observed. A molecular genetic analysis GAA revealed mutation, c.1544 T>A (M515K), combined previously reported c.1309 C>T (R437C). presence ACP-positive is useful diagnostic marker disease, even when fibers are absent.
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