Author

S. Kirmani

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Open access Jan 2026

Integrated Approach to Diagnosing Limb‐Girdle Muscular Dystrophies in Resource‐Limited Settings

Limb‐girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of neuromuscular disorders characterized by overlapping clinical features, including progressive muscle weakness and wasting, elevated creatine kinase (CK) levels, and motor and skeletal abnormalities. Due to phenotypic overlap and variable s...

Hammad Yousaf, Lubaba Bintee Khalid, Affan Ahmed et al. · Human Mutation · 0 citations

Open access Sep 2026

Prime Editing Corrects the HBB Codon 8/9 (+G) Mutation in Patient-Derived Induced Pluripotent Stem Cells and Restores β-Globin Expression in iPSC-Derived Erythroid Cells

Background Homozygosity for the HBB codon 8/9 (+G) frameshift (c.27dup (p.Ser10ValfsTer14)) causes transfusion-dependent β⁰-thalassaemia and is common in South Asia. Prime editing can reverse this insertion without double-strand breaks or donor DNA, but its efficiency depends on pegRNA design. Methods We derived Sendai...

Irfan Hussain, Kainaat Mumtaz, Maliha Javed et al. · bioRxiv · 0 citations