RT Journal Article
SR Electronic
T1 Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 214
OP 217
DO 10.17712/nsj.2020.3.20200002
VO 25
IS 3
A1 Khalid H. Aldosari
A1 Sameer Al-Ghamdi
A1 Khalid M. Alkhathlan
A1 Hisham M. Alkhalidi
YR 2020
UL http://nsj.org.sa/content/25/3/214.abstract
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.