{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T17:45:12Z","timestamp":1777571112446,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,12,24]],"date-time":"2024-12-24T00:00:00Z","timestamp":1734998400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Primary hypokalemic periodic paralysis (HypoPP) can present with periodic paralysis and\/or permanent muscle weakness. Permanent weakness is accompanied by fat replacement of the muscle. It is unknown whether the permanent muscle weakness is solely due to fat replacement or if other factors affect the ability of the remaining muscle fibers to contract. We aimed to investigate muscle fat replacement and contractility in persons with HypoPP\u2010causing variants in <jats:italic>CACNA1S<\/jats:italic> and to compare the results to healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this cross\u2010sectional study, we used T1\u2010weighted and 2\u2010point Dixon magnetic resonance imaging (MRI) to assess fat replacement of the muscle and stationary dynamometry to assess muscle strength. Contractility was determined by maximal muscle contraction divided by the contractile cross\u2010sectional muscle area.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We included 45 persons with HypoPP\u2010causing variants in <jats:italic>CACNA1S<\/jats:italic> and data from 37 healthy controls. We found that fat fraction was increased in ankle dorsiflexors and knee extensors and flexors, and further found that muscle strength was decreased in knee extensors and flexors in persons with HypoPP\u2010causing variants in <jats:italic>CACNA1S<\/jats:italic> compared to healthy controls. Additionally, we found decreased contractility of thigh muscles in persons with HypoPP\u2010causing variants in <jats:italic>CACNA1S<\/jats:italic> compared to healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>The decreased contractility could relate to skeletal muscle voltage\u2010gated calcium channel dysfunction, subclinical attacks of paralysis, and\/or changed muscle architecture, but this needs further investigation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.28330","type":"journal-article","created":{"date-parts":[[2024,12,25]],"date-time":"2024-12-25T04:48:27Z","timestamp":1735102107000},"page":"360-367","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Muscle Contractility in Hypokalemic Periodic Paralysis"],"prefix":"10.1002","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8732-2744","authenticated-orcid":false,"given":"Sonja","family":"Holm\u2010Yildiz","sequence":"first","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Krag","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tina","family":"Dysgaard","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Britt St\u00e6vnsbo","family":"Pedersen","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0664-0709","authenticated-orcid":false,"given":"Nanna","family":"Witting","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise Sloth","family":"Kodal","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Kannuberg","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonas Jalili","family":"Pedersen","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1990-9778","authenticated-orcid":false,"given":"Rebecca Kj\u00e6r","family":"Andersen","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3739-8759","authenticated-orcid":false,"given":"Zhe","family":"Lyu","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University of Copenhagen  Copenhagen 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