Caveolinopathy pesenting with excercise induced stiffness and transient muscle mounding
- Author:
Song-Hwa CHAE
1
;
Jin-Hong SHIN
;
Dae-Seong KIM
Author Information
- Publication Type:4
- From: Annals of Clinical Neurophysiology 2024;26(1):30-33
- CountryRepublic of Korea
- Language:English
- 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.
