A Novel Mutation of the GAA Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology
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概要
- 論文の詳細を見る
We herein report a novel compound heterozygous mutation of the acid α-glucosidase (GAA) gene in a 23-year-old man with adult-onset Pompe disease. The patient was admitted for respiratory failure and a highly elevated serum level of creatine kinase (CK). His muscle pathology did not show typical vacuolated fibers; however, globular inclusion bodies with acid phosphatase (ACP) activity was observed. A molecular genetic analysis of the GAA gene revealed a novel compound heterozygous mutation, c.1544 T>A (M515K), combined with a previously reported mutation, c.1309 C>T (R437C). The presence of ACP-positive globular inclusion bodies is a useful diagnostic marker for adult-onset Pompe disease, even when typical vacuolated fibers are absent.
- 社団法人 日本内科学会の論文
著者
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Nanba Eiji
Division Of Functional Genomics Research Center For Bioscience And Technology Tottori University
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Adachi Kaori
Division Of Pediatric Neurology Yokohama Ryouikuen
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Nishino Ichizo
Department Of Neuromuscular Disorders National Institute Of Neuroscience National Center Of Neurolog
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NARAI HISASHI
Department of Neurology, Graduate School of Medicine and Dentistry, Okayama University
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OMORI Nobuhiko
Department of Neurology, National Hospital Organization Okayama Medical Center
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Abe Koji
Department Of Applied Chemistry Graduate School Of Engineering Tohoku University
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Takahashi Yoshiaki
Department Of Anatomy Oita Medical University
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Manabe Yasuhiro
Department Of Neurology Graduate School Of Medicine And Dentistry Okayama Univeristy
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Matsuzono Kosuke
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
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Fujimoto Shohei
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
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Fujii Daiki
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
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Kozai Yuko
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
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Abe Koji
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan
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Omori Nobuhiko
Department of Neurology, National Hospital Organization Okayama Medical Center, Japan
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