A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).

Abstract excerpt

OBJECTIVES: To report a family with autosomal-dominant chronic progressive external ophthalmoplegia due to a novel truncating pathogenic variant in RRM2B and to show the challenges facing clinicians in diagnosing rare neuromuscular diseases. METHODS: Four family members were examined. Muscle biopsy, mitochondrial DNA analysis, next generation sequencing, and targeted mitochondrial gene panel followed by Sanger...

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