{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T02:13:59Z","timestamp":1789352039381,"version":"build-2803163510"},"reference-count":0,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1995,3,1]],"date-time":"1995-03-01T00:00:00Z","timestamp":794016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Physiology"],"published-print":{"date-parts":[[1995,3]]},"abstract":"<jats:p>1. Mutations in the gene encoding the alpha 1\u2010subunit of the skeletal muscle dihydropyridine (DHP) receptor are responsible for familial hypokalaemic periodic paralysis (HypoPP), an autosomal dominant muscle disease. We investigated myotubes cultured from muscle of patients with arginine\u2010to\u2010histidine substitutions in putative voltage sensors, IIS4 (R528H) and IVS4 (R1239H), of the DHP receptor alpha 1\u2010subunit. 2. Analysis of the messenger ribonucleic acid (mRNA) in the myotubes from such patients indicated transcription from both the normal and mutant genes. 3. In control myotubes, the existence of the slow L\u2010type current and of two rapidly activating and inactivating calcium current components (T\u2010type with a maximum at about \u201020 mV and \u2018third type\u2019 with a maximum at +10 to +20 mV) was confirmed. In the myotubes from patients with either mutation, the third\u2010type current component was seen more frequently and, on average, with larger amplitude. 4. In myotubes with the IVS4 mutation (R1239H) the maximum L\u2010type current density was smaller than control (\u20100.53 +\/\u2010 0.31 vs. \u20101.41 +\/\u2010 0.71 pA pF\u20101). The voltage dependence of activation was normal, and hyperpolarizing prepulses to \u2010120 mV for 20 s did not increase the reduced current amplitude during test pulses. 5. In myotubes with the IIS4 mutation (R528H) the L\u2010type current\u2010voltage relation, determined at a holding potential of \u201090 mV, was normal. However, the voltage dependence of inactivation was shifted by about 40 mV to more negative potentials (voltage at half\u2010maximum inactivation, V1\/2 = \u201041.5 +\/\u2010 8.2 vs. \u20104.9 +\/\u2010 4.3 mV in normal controls).(ABSTRACT TRUNCATED AT 250 WORDS)<\/jats:p>","DOI":"10.1113\/jphysiol.1995.sp020586","type":"journal-article","created":{"date-parts":[[2014,12,17]],"date-time":"2014-12-17T11:01:48Z","timestamp":1418814108000},"page":"299-306","source":"Crossref","is-referenced-by-count":53,"title":["Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes."],"prefix":"10.1113","volume":"483","author":[{"given":"I","family":"Sipos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Jurkat-Rott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Harasztosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Fontaine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Kovacs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W","family":"Melzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Lehmann\u2010Horn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1995,3]]},"container-title":["The Journal of Physiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1113%2Fjphysiol.1995.sp020586","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/physoc.onlinelibrary.wiley.com\/doi\/pdf\/10.1113\/jphysiol.1995.sp020586","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T04:02:11Z","timestamp":1698292931000},"score":1,"resource":{"primary":{"URL":"https:\/\/physoc.onlinelibrary.wiley.com\/doi\/10.1113\/jphysiol.1995.sp020586"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,3]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,3]]}},"alternative-id":["10.1113\/jphysiol.1995.sp020586"],"URL":"https:\/\/doi.org\/10.1113\/jphysiol.1995.sp020586","archive":["Portico"],"relation":{},"ISSN":["0022-3751","1469-7793"],"issn-type":[{"value":"0022-3751","type":"print"},{"value":"1469-7793","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,3]]}}}