Journal of Cardiovascular Imaging

  • 제17권1호
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  • Pages.28-30
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  • 2009
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  • 2586-7210(pISSN)
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  • 2586-7296(eISSN)
한국심초음파학회 (Korean Society of Echocardiography)
권호 표지

A Case of Suspected Danon Disease Presenting as a Hypertrophic Cardiomyopathy

  • Park, So-Yeon (Division of Cardiology, Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital) ;
  • Park, Dae-Gyun (Division of Cardiology, Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital) ;
  • Choi, Hyun-Hee (2Division of Cardiology, Department of Internal Medicine, Hallym University Chuncheon Sacred Heart Hospital) ;
  • Yoon, Duck-Hyoung (Division of Cardiology, Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital) ;
  • Kim, Sung-Eun (Division of Cardiology, Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital) ;
  • Lee, Jun-Hee (Division of Cardiology, Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital) ;
  • Han, Kyoo-Rok (Division of Cardiology, Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital) ;
  • Oh, Dong-Jin (Division of Cardiology, Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital)
  • 발행 : 2009.03.27

⟨ 이전 논문 다음 논문 ⟩

초록

Danon disease is characterized clinically by the triad of cardiomyopathy, myopathy and mental retardation. It was originally reported as a lysosomal glycogen storage disease with normal acid maltase by Danon. Danon disease results from mutations in lysosome associated membrane protein-2 (LAMP-2) gene. The LAMP-2 gene is located on Xq24-25. We report a case of suspected Danon disease in patient who had hypertrophic cardiomyopathy and mental retardation along with abnormal findings in electromyography.

키워드

참고문헌

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