Analysis of 17 dysferlinopathy patients with two pathogenic mutations in the gene DYSF and 21 patients with other neuromuscular diseases confirmed normal levels of dysferlin in all the pathological controls and abnormal dysferlin (severe reduction or absence) in all dysferlinopathy patients, demonstrating a high sensitivity and specificity for diagnosis of dysferlinopathy. Here, DYSF is linked to neuromuscular disease.