Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B

Dysferlinopathies are rare autosomal recessive muscular dystrophies caused by mutation in the dysferlin (DYSF) gene, resulting in varied phenotype. In this case report, we review a 26-year-old diabetic male patient who presented to hospital suffering from progressive muscle weakness. We confirmed the diagnosis of dysferlinopathy with phenotype of limb girdle muscular dystrophy, followed by a muscle biopsy, immunohistochemistry and a molecular technique, exome sequencing. The specific homozygous mutations in DYSF and heterozygous mutation PSAP genes identified in the present case of LGMD-2B are found in the Saudi population. Received 10th March 2020. Accepted 25th April 2020.