{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T03:41:40Z","timestamp":1773459700818,"version":"3.50.1"},"reference-count":32,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["neurology.org"],"crossmark-restriction":true},"short-container-title":["Neurology"],"published-print":{"date-parts":[[1996,10]]},"DOI":"10.1212\/wnl.47.4.963","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T13:23:30Z","timestamp":1336915410000},"page":"963-968","update-policy":"https:\/\/doi.org\/10.1212\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":50,"title":["Myotonia and the muscle chloride channel"],"prefix":"10.1212","volume":"47","author":[{"given":"P. P.","family":"Koty","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Pegoraro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Hobson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. G.","family":"Marks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Turel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Flagler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Cadaldini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Angelini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. P.","family":"Hoffman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.250.4980.1"},{"key":"e_1_3_1_3_2","first-page":"3","volume":"354","year":"1991","unstructured":"Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown RH. A met to val mutation in the skeletal muscle Na sup + channel alpha-subunit in hyperkalemic periodic paralysis. Nature 1991;354:387-389.","journal-title":"Nature"},{"key":"e_1_3_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90564-F"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90200-V"},{"key":"e_1_3_1_6_2","first-page":"1","volume":"51","year":"1994","unstructured":"Ricker K, Moxley RT III, Heine R, Lehmann-Horn F. Myotonia fluctuans: a third type of muscle sodium channel disease. Arch Neurol 1994;51:1095-1102.","journal-title":"Arch Neurol"},{"key":"e_1_3_1_7_2","first-page":"6","volume":"80","year":"1995","unstructured":"Hoffman EP, Lehmann-Horn F, Rudel R. Overexcited or inactive: ion channels in muscle disease. Cell 1995;80:681-686.","journal-title":"Cell"},{"key":"e_1_3_1_8_2","first-page":"1","volume":"255","year":"1992","unstructured":"Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3 prime untranslated region of the gene. Science 1992;255:1253-1255.","journal-title":"Science"},{"key":"e_1_3_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90200-V"},{"key":"e_1_3_1_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/355005a0"},{"key":"e_1_3_1_11_2","first-page":"5","volume":"4","year":"1995","unstructured":"Wang JZ, Pegoraro E, Menegazzo E, et al. Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet 1995;4:599-606.","journal-title":"Hum Mol Genet"},{"key":"e_1_3_1_12_2","unstructured":"Becker PE Vogel WLF Wendt GG. Topics in human genetics: Myotonia Congenita and Syndromes Associated with Myotonia. Vol. III. Stuttgart: Georg Thieme Publishers 1977."},{"key":"e_1_3_1_13_2","first-page":"2","volume":"50","year":"1971","unstructured":"Lipicky RJ, Bryant SH, Salmon JH. Cable parameters, sodium, potassium, chloride, and water content and potassium efflux in isolated intercostal muscle of normal volunteers and patients with myotonia congenita. J Clin Invest 1971;50:2091-2102.","journal-title":"J Clin Invest"},{"key":"e_1_3_1_14_2","first-page":"2","volume":"11","year":"1988","unstructured":"Rudel R, Ricker K, Lehmann-Horn F. Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker). Muscle Nerve 1988;11:202-211.","journal-title":"Muscle Nerve"},{"key":"e_1_3_1_15_2","first-page":"7","volume":"14","year":"1991","unstructured":"Franke C, Iaizzo PA, Hatt H, Spittelmeister W, Ricker K, Lehmann-Horn F. Altered Na channel activity and reduced Cl conductance cause hyperexcitability in recessive generalized myotonia (Becker). Muscle Nerve 1991;14:762-772.","journal-title":"Muscle Nerve"},{"key":"e_1_3_1_16_2","first-page":"6","volume":"67","year":"1987","unstructured":"Bretag AH. Muscle chloride channels. Physiol Rev 1987;67:618-724.","journal-title":"Physiol Rev"},{"key":"e_1_3_1_17_2","first-page":"3","volume":"354","year":"1991","unstructured":"Steinmeyer K, Klocke R, Ortland C, et al. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature 1991;354:304-308.","journal-title":"Nature"},{"key":"e_1_3_1_18_2","first-page":"5","volume":"51","year":"1992","unstructured":"Abdalla JA, Casley WL, Cousin HK, et al. Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35. Am J Hum Genet 1992;51:579-584.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_1_19_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1992.257.5066.twis"},{"key":"e_1_3_1_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0193-3"},{"key":"e_1_3_1_21_2","first-page":"7","volume":"13","year":"1994","unstructured":"Steinmeyer K, Lorenz C, Pusch M, Koch MC, Jentsch TJ. Multimeric structure of CLC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen): EMBO J 1994;13:737-743.","journal-title":"Multimeric structure of CLC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen): EMBO J"},{"key":"e_1_3_1_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570102"},{"key":"e_1_3_1_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.1.1"},{"key":"e_1_3_1_24_2","first-page":"2","volume":"3","year":"1994","unstructured":"George AL Jr, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R, Pascuzzi RM. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet 1994;3:2071-2072.","journal-title":"Hum Mol Genet"},{"key":"e_1_3_1_25_2","unstructured":"Higuchi R. Rapid efficient DNA extraction for PCR from cells or blood. In: Amplifications--A Forum for PCR Users. Issue 2. Emeryville CA: Cetus 1989."},{"key":"e_1_3_1_26_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.1.9"},{"key":"e_1_3_1_27_2","first-page":"8","volume":"5","year":"1989","unstructured":"Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5:874-879.","journal-title":"Genomics"},{"key":"e_1_3_1_28_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.1.2"},{"key":"e_1_3_1_29_2","first-page":"7","volume":"182","year":"1992","unstructured":"Wang J, Rojas CV, Zhou J, Scwartz LS, Nicholas H, Hoffman EP. Sequence and genomic structure of the adult skeletal muscle sodium channel alpha-subunit gene on 17q. Biochem Biophys Res Commun 1992;182:794-801.","journal-title":"Biochem Biophys Res Commun"},{"key":"e_1_3_1_30_2","unstructured":"Sambrook J Fritsch EF Maniatis T. Molecular cloning: a laboratory manual. Second ed. Cold Springs Harbor NY: Cold Spring Harbor Laboratory 1989."},{"key":"e_1_3_1_31_2","first-page":"1","volume":"52","year":"1993","unstructured":"Wang J, Zhou J, Todorovic SM, et al. Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene. Am J Hum Genet 1993;52:1074-1084.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_1_32_2","unstructured":"Koty PP Marks HG Turel A et al. Linkage of Thomsen and Becker myotonia families [abstract]. Am J Hum Genet 1994;55(Suppl):A227."},{"key":"e_1_3_1_33_2","first-page":"1","volume":"33","year":"1994","unstructured":"Middleton RE, Pheasant DJ, Miller C. Purification, reconstitution, and subunit composition of a voltage-gated chloride channel from Torpedo electroplax. Biochem 1994;33:13189-13198.","journal-title":"Biochem"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.47.4.963","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T10:25:36Z","timestamp":1711535136000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.47.4.963"}},"subtitle":["Dominant mutations show variable penetrance and founder effect"],"short-title":[],"issued":{"date-parts":[[1996,10]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1996,10]]}},"alternative-id":["10.1212\/WNL.47.4.963"],"URL":"https:\/\/doi.org\/10.1212\/wnl.47.4.963","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,10]]}}}