Dysferlin is the protein product of the 2p13 gene that is defective in individuals with Limb-Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM). Dysferlin is normally localized to the muscle plasma membrane. In individuals with LGMD2B and MM, immunoreactivity to dysferlin is reported to be severely reduced or lost, depending on the type of mutation. Individuals with other neuromuscular conditions demonstrate normal labeling patterns.
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NCL-Hamlet may require heat induced epitope retrieval in some cases. Labeling with an antibody to beta-spectrin, to monitor membrane integrity, is an essential immunohistochemical control.