Asymptomatic and oligosymptomatic states of dysferlinopathy.

Dysferlinopathy is a phenotypically heterogeneous, inherited, progressive muscular dystrophy caused by mutations in the gene. Dysferlinopathy is marked by elevated serum creatine kinase (CK) and can in some cases manifest as hyperCKemia in asymptomatic or low-symptom states. Here, we describe the clinical signs and symptoms and laboratory and imaging results with quantitative MRI analysis of eight pediatric patients at asymptomatic and oligosymptomatic states of dysferlinopathy (aged 3-14 years).