Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients

Inflammation was detected in 9 of 13 patients with different phenotypes of dysferlin myopathy. Endomysial or perivascular infiltrates consisted of 11. 1% +/- 6.6% C8(+) cells, 40.6% +/- 22.8% CD4(+) cells, 36.7% +/- 23.7% macr ophages, and no B cells. Major histocompatibility complex class I was not u pregulated in normal muscle fibers. In young patients with sporadic proxima l weakness, very high creatine kinase levels, necrotic fibers and inflammat ion in the muscle biopsy, a diagnosis of dysferlin myopathy should be consi dered.