Caveolinopathy: clinical, histological and muscle imaging features and follow-up in a multicenter retrospective cohort.
European journal of neurology(2023)
摘要
Caveolinopathy have diverse clinical, muscle imaging and histological presentations but often have limited functional impact. Mild forms of the disease, an atypical phenotype and normal caveolin-3 immunostaining are pitfalls leading to misdiagnosis.
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关键词
muscle imaging features
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