【摘 要】
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Backgroud The mutations in dysferlin gene are the main cause of Miyoshi myopathy characterized by symmetrical and selective involvement of distal limb muscles and limb-girdle muscular dystrophy type 2
【机 构】
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The First Affiliated Hospital of Sun Yat-sen University
【出 处】
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The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie
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Backgroud The mutations in dysferlin gene are the main cause of Miyoshi myopathy characterized by symmetrical and selective involvement of distal limb muscles and limb-girdle muscular dystrophy type 2B with primarily proximal muscle weakness and atrophy.Both myopathiesmanifested as limb muscle weakness and atrophy,and moderate to gross elevation of serum creatine kinase.While there are rarely reports about serum lactate abnormally elevation after exercise in the patients of dysferlinopathy.Here,we reported a patient with a high level of serum lactate of limb-girdle muscular dystrophy type 2B confirmed by the clinical and genetic analysis.
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