Caveolinopathy pesenting with excercise induced stiffness and transient muscle mounding
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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 (hyperCKemia), 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.
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 (hyperCKemia), 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.
참고문헌 (10)
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