Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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A Case of Adult Onset Glycogen Storage Myopathy

성인형 당원축적근육병 1예

  • Shin, Jung Hwan (Department of Neurology, Seoul National University College of Medicine) ;
  • Kim, Dong Gun (Department of Neurology, Seoul National University College of Medicine) ;
  • Shin, Je Young (Department of Neurology, Seoul National University College of Medicine) ;
  • Park, Sung Hye (Department of Pathology, Seoul National University College of Medicine) ;
  • Lee, Kwang Woo (Department of Neurology, Seoul National University College of Medicine)
  • 신정환 (서울대학교 의과대학 신경과학교실) ;
  • 김동건 (서울대학교 의과대학 신경과학교실) ;
  • 신제영 (서울대학교 의과대학 신경과학교실) ;
  • 박성혜 (서울대학교 의과대학 병리학교실) ;
  • 이광우 (서울대학교 의과대학 신경과학교실)
  • Received : 2014.04.07
  • Accepted : 2014.12.05
  • Published : 2014.12.31
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Abstract

Primary metabolic myopathy as a type of congenital myopathies was first described by McArdle in 1951. Glycogen storage disease is a disease caused by genetic mutations involved in glycogen synthesis, glycogenolysis or glycolysis. Several types of glycogen storage disease are known to cause metabolic myopathies. We report a case of adult onset metabolic myopathy with glycogen storage.

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References

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