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 strategy. Thus we generated a knock-in mouse with p.Q832* mutation, most frequently found among our dysferlinopathy cases.

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