Summary of patients with normal expression of dysferlin included in this study.
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N-Normal; 1- reduced sarcolemma; 2- Reduced sarcolemma and increased sarcoplasm staining; 3- Variable sarcoplasm staining. *Patients with DYSF gene analyzed and no mutations found. M:male; F: female; LGMD: limb girdle muscle dystrophy; VCP: valosin containing protein; PM: polimyositis; MM: Miyoshi myopathy. HMZ: homozygous. The mutation of pathological control C_X have been previously described [38].
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2011-12-16
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