PT  - JOURNAL ARTICLE
AU  - Aldosari, Khalid H.
AU  - Al-Ghamdi, Sameer
AU  - Alkhathlan, Khalid M.
AU  - Alkhalidi, Hisham M.
TI  - Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B
AID  - 10.17712/nsj.2020.3.20200002
DP  - 2020 Jul 01
TA  - Neurosciences Journal
PG  - 214--217
VI  - 25
IP  - 3
4099  - http://nsj.org.sa/content/25/3/214.short
4100  - http://nsj.org.sa/content/25/3/214.full
SO  - Neurosciences (Riyadh)2020 Jul 01; 25
AB  - 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.