When in excess, X-ROS in skeletal muscle is maladaptive as shown in diseases such as Duchenne muscular dystrophy (DMD) and dysferlinopathy
which both have altered calcium signaling as major mechanistic underpinnings.
Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene.
Dysferlinopathy is a group of autosomal recessive muscular dystrophies caused by mutations in dysferlin( DYSF ) gene showing marked clinical heterogeneity.
Western blot analysis and immunohistochemistry are important tools in the initial diagnosis of primary dysferlinopathy due to their low cost and convenience in clinical practice.
To date, no more than 60 Chinese dysferlinopathy patients with genetic diagnoses had been reported.
Eighty-seven patients were included in this study based on the clinical suspicion of primary dysferlinopathy and absent/severely reduced dysferlin expression as evidenced by immunohistochemical analyses of muscle specimen.