Mutations in the dysferlin gene result in the development of a range of early adult-onset,
progressive muscular dystrophies, collectively known as the dysferlinopathies. There is
currently no effective treatment for these disorders. Several spontaneous and engineered
alleles at the mouse dysferlin locus have been isolated and these dysferlin-deficient mouse
strains are providing valuable insights into the role dysferlin plays in skeletal muscle
physiology, heart function, and the regulation of the innate immune system. In addition …