[A patient with distal muscular dystrophy without mutations in dysferlin gene but with abnormal dysferlin localization in muscle fibers].

Abstract excerpt

We report a 40-year-old man who noticed difficulty in standing on his tiptoe from approximately 36 years-old. He presented with selective calf muscle weakness on flexion. The serum creatine kinase (CK) level slightly increased to 569IU/l. Muscle computed tomography (CT) revealed selective gastroc...

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