LAUSR

Recessive mutations in anoctamin-5 (ANO5) are responsible for limb-girdle muscular dystrophy (LGMD) 2 L and non-dysferlin Miyoshi-like distal myopathy. ANO5 mutations are prevalent in European countries, however it is not common in patients of Asian origin and there is no data regarding Chinese population. We retrospectively reviewed the clinical manifestations and gene mutations of patients with Anoctaminopathy. A total of 5 ANO5 mutations including 4 novel mutations and one reported mutation in four patients from three families. Three patients presented presymptomatic hyperCKemia and one patient had limb muscle weakness. Muscle imaging of lower limbs showed preferential adductor magnus and medial gastrocnemius involvement. No hotspot was identified in Chinese patients to date.