Limb girdle muscular dystrophies

Dysferlinopathy is an autosomal recessive disease caused by a DYSF (MIM*603009) gene mutation, located on chromosome 2p13. We investigated clinical, laboratory, radiological, pathological, and genetic spectrum of dysferlinopathy in the Korean population. For this study, we reviewed medical records from patients with genetic myopathy from January 2004 to March 2020 at Gangnam Severance Hospital. Then, we identified 86 patients with dysferlinopathy. We analyzed the clinical spectrum of patients with dysferlinopathy FAF, which included sex, age of the diagnosis; the age of the symptom onset; and the presence of motor weakness and sensory deficits.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research