This study included four men and women with dysferlinopathy. All eight patients came from Guangzhou First People's Hospital. All eight patients were of Chinese origin and from seven different families without any known consanguinity or familial history of neuromuscular disease. The clinical and laboratory findings, including routine blood tests, electromyography (EMG), and routine cardiological assessments of each patient were retrospectively reviewed. Besides, magnetic resonance imaging (MRI) of muscle, immunohistochemistry (IHC) of muscle, immunoblotting of dysferlin expression in total PBMC, and/or muscle and genetic analysis were obtained from some patients after informed consent. The control muscle samples were taken from patients with informed consent who had undergone open fracture surgery as a result of a car accident. The control PBMC sample was taken from patient 1's sister with informed consent since she is a non-carrier of DYSF mutations.

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