Article
Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles.
Muscle & nerve - 1 Aug 2012
Tan S Veronica, Z'graggen Werner J, Boërio Delphine, Rayan Dipa L Raja, Howard Robin, Hanna Michael G, Bostock Hugh
Abstract excerpt
INTRODUCTION: Andersen-Tawil syndrome (ATS) due to Kir2.1mutations typically manifests as periodic paralysis, cardiac arrhythmias and developmental abnormalities but is often difficult to diagnose clinically. This study was undertaken to determine whether sarcolemmal dysfunction could be identified with muscle velocity recovery cycles (MVRCs). METHODS: Eleven genetically confirmed ATS patients and 20 normal...
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