Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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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)
  • Received : 2024.01.31
  • Accepted : 2024.02.27
  • Published : 2024.04.30
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Abstract

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.

Keywords

Acknowledgement

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

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