A knock-in mouse model with nonsense dysferlin mutation

Mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy with autosomal recessive inheritance pattern. A few mouse models harboring truncating mutations have been in use for the research of the dysferlinopathy. We found nonsense mutations are most common among Korean patients with dysferlinopathy; more than half of the patients have at least one nonsense allele, which could be mitigated by readthrough...