Annals of Clinical Neurophysiology

  • 제26권1호
  • /
  • Pages.30-33
  • /
  • 2024
  • /
  • 2508-691X(pISSN)
  • /
  • 2508-6960(eISSN)
대한임상신경생리학회 (The Korean Society of Clinical Neurophysiology)
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Caveolinopathy pesenting with excercise induced stiffness and transient muscle mounding

  • Song-Hwa Chae (Department of Neurology, Pusan National University Yangsan Hospital) ;
  • Jin-Hong Shin (Department of Neurology, Pusan National University Yangsan Hospital) ;
  • Dae-Seong Kim (Department of Neurology, Pusan National University Yangsan Hospital)
  • 투고 : 2024.01.31
  • 심사 : 2024.02.27
  • 발행 : 2024.04.30
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초록

Rippling muscle disease (RMD) is caused by dominant mutations of the caveolin-3 gene (CAV3), and presents with overlapping limb-girdle muscle weakness, elevated creatine kinase (hyper-CKemia), RMD, and distal myopathy. We report a patient with a CAV3 mutation who presented with myalgia, exercise-induced muscle stiffness, hyperCKemia, and percussion-induced rapid muscle contraction and muscle mounding. A familial genetic study revealed the same mutation in two family members, with physical examinations showing that both of them had rippling muscles.

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과제정보

This work was supported by a 2-year Research Grant of Pusan National University.

참고문헌

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