Dysferlin is the protein product of the 2p13 gene that is defective in patients with Limb-Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM). Dysferlin is normally localized to the muscle plasma membrane. In patients with LGMD2B and MM, immunoreactivity to dysferlin is severely reduced or lost. Patients with other neuromuscular conditions demonstrate normal labeling patterns.
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HAMLET may require heat-induced epitope retrieval in some cases.
Dysferlin Antibodies are recommended for the detection of specific antigens of interest in normal and abnormal tissues tissues, as an adjunct to conventional histopathology using non-immunologic histochemical stains.