A novel truncating pathogenic variant in the RRM2B gene has been identified in a Kurdish family with autosomal-dominant chronic progressive external ophthalmoplegia plus (PEOA5). This discovery adds to the understanding of genetic factors contributing to this rare disease.
novel truncating pathogenic variant in rrm2b in a kurdish family with autosomal dominant chronic progressive external ophthalmoplegia plus peoa5
Original title: “A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).”