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- Khalid H Aldosari, Sameer Al-Ghamdi, Khalid M Alkhathlan, and Hisham M Alkhalidi.
- College of Medicine, Prince Sattam bin Abdulaziz University, Al-Kharj 11942, Kingdom of Saudi Arabia.
- Neurosciences. 2020 Jul 1; 25 (3): 214-217.
AbstractDysferlinopathies 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.
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