Novel Compound Heterozygous DYSF Mutations Lead to Dysferlinopathy

Here we report a 41-year-old patient who presented with a proximodistal onset limb weakness for 20 years at the administration. He was able to walk haltingly with a cane. On examination, his extremities muscle was wasting and strength was reduced. Laboratory examinations supported muscular disorders. Genetic testing demonstrated two novel pathogenic mutations c.2014-2020delATCGAGA and c.5350 C>T in dysferlin gene. Muscle biopsy revealed lobulated muscle fibers, ragged red/blue fibers, lack of inflammation, and absence of dysferlin expression. Our case added further weight on the mitochondrial deficiency, rather than inflammatory response as the pathogenesis of dysferlinopathy.