Abstract
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.
Footnotes
Disclosure. The authors declare no conflicting interests, support or funding from any drug company. This publication was supported by the Deanship of Scientific Research at Prince Sattam bin Abdulaziz University, Al-Kharj, Kingdom of Saudi Arabia
- Received March 10, 2020.
- Accepted April 25, 2020.
- Copyright: © Neurosciences
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