Related Experiment Video
Updated: May 20, 2026

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells
Published on: May 7, 2020
An unexpected cause of proximal myopathy
Sarah Ann Townsend1, Matt Smith, Wyn Harris
1Department of General Medicine, Singleton Hospital, Swansea, UK. sarah.townsend2@wales.nhs.uk
Abstract:
A 25-year-old man presented with a short history of profound proximal muscle weakness such that he was unable to stand. Laboratory investigations demonstrated hypokalaemia and mildly elevated serum creatine kinase. He reported a history of 8-10 episodes of less severe weakness in the preceding 8 years and his mother reported similar symptoms. The combination of weakness and hypokalaemia with a probable family history suggested the diagnosis of hypokalaemic periodic paralysis. He was treated with intravenous and oral potassium supplementation, and regained full power within 24 h.
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