Mutations in the dysferlin gene are responsible for adult-onset, progressive, and recessively inherited muscular dystrophies called dysferlinopathy, which has two main phenotypes: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B. The dysferlin is composed of 55 exons encoding for 2,080 amino acids. The dysferlin protein is expressed in the plasma membrane of skeletal muscles and has been reported to be involved in calcium-mediated membrane fusion and repair. We previously reported over 50 different mutations across the entire dysferlin and are focusing on these dysferlin and dysferlin-related proteins.

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