Publications by authors named "Ehtishamul Haq Makhdoom"
J Clin Neurosci
September 2019
Article Synopsis
- Hereditary Spastic Paraplegias (HSPs) are a group of disorders that cause progressive weakness and stiffness in the lower limbs, along with other neurological issues.
- This study focused on two Pakistani families with HSP, using Whole Exome Sequencing to identify gene variants that may be causing the condition in affected family members.
- In one family, a new variant in the CYP2U1 gene was linked to symptoms of SPG56, while a known variant in the SPG11 gene was associated with SPG11 symptoms in the other family, demonstrating the genetic complexity of HSPs and the effectiveness of WES for diagnosis.
