Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy

•Report of novel mutations in a Chinese cohort of anoctaminopathy.•Presymptomatic hyperCkemia is the most common phenotype in this Chinese cohort of anoctaminopathy.•Adductor magnus and medial gastrocnemius are preferentially involved in muscle MRI of anoctaminopathy. Recessive mutations in anoctamin-5 (ANO5) are causative for limb-girdle muscular dystrophy (LGMD) 2 L and non-dysferlin Miyoshi-like distal myopathy (MMD3). ANO5 mutations are highly prevalent in European countries; however it is not common in patients of Asian origin, and there is no data regarding the Chinese population. We retrospectively reviewed the clinical manifestations and gene mutations of Chinese patients with anoctaminopathy. A total of five ANO5 mutations including four novel mutations and one reported mutation were found in four patients from three families. No hotspot mutation was found. Three patients presented with presymptomatic hyperCKemia and one patient had limb muscle weakness. Muscle imaging of lower limbs showed preferential adductor magnus and medial gastrocnemius involvement. No hotspot mutation has been identified in Chinese patients to date.