Dysferlinopathy is an adult-onset, progressive, rare form of muscular dystrophy caused by recessive loss-of-function mutations in the gene encoding dysferlin, DYSF, and includes the clinical diagnoses of limb-girdle muscular dystrophy 2B/R2, Miyoshi myopathy type 1, and distal anterior compartment myopathy (Illa et al., 2001; Liu et al., 1998). The gene discussed is DYSF; the disease is distal myopathy with anterior tibial onset.