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.
Article Type
Case Report
First Page
214
Last Page
217
Recommended Citation
Aldosari, Khalid H.; Al-Ghamdi, Sameer; Alkhathlan, Khalid M.; and Alkhalidi, Hisham M.
(2020)
"Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B,"
Neurosciences: Vol. 25:
Iss.
3, Article 10.
DOI: https://doi.org/10.17712/nsj.2020.3.20200002