Recessive mutations in the ANO5 gene, encoding anoc-tamin 5, cause either a proximal limb-girdle muscular' dystrophy or a distal myopathy phenotype [2], The latter has many similarities to Miyoshi myopathy, caused by mutations in the dysferlin gene. Both disorders usually manifest in young adults by initial calf muscle weakness, very high creatine kinase (CK) levels, and dystrophic features on muscle biopsy. Dysferlin immunostaining is normal in anoctaminopathy whereas it is absent in dys-ferlinopathy. This is the first report on muscle necrotizing vasculitis observed in a myopathy caused by AN05 gene mutations.
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