, Volume 259, Issue 9, pp 1988-1990
Date: 19 Apr 2012

Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis

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Dear Sirs,

Recessive mutations in the ANO5 gene, encoding anoctamin 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 dysferlinopathy. This is the first report on muscle necrotizing vasculitis observed in a myopathy caused by ANO5 gene mutations.

A 46-year-old man was admitted to a general hospital for malaise. He was diagnosed with Chlamydia pneumoniae infection and treated successfully with roxithromycine. A painless lower limb muscle weakness was also noticed. The first symptom was difficulty in running at age 34 years. Family history was negative for neuromuscular disease. Serum CK levels were 3,612 and 1,168  ...