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Comparison of cDNA sequences encoding the skeletal muscle specific components of the dihydropyridine receptor alpha 1 subunit between MH susceptible (MHS) and MH non-susceptible (MHN) patients was made in subjects without the reported MH linked RYR1 mutations. There were no differences within the sequence encoding the II-III loop or the IS3\/IS3-IS4 segment, excluding defects in these functional segments of the alpha 1 subunit as frequent causes of MH.<\/jats:p>","DOI":"10.1136\/jmg.32.11.913","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"913-914","source":"Crossref","is-referenced-by-count":4,"title":["Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia."],"prefix":"10.1136","volume":"32","author":[{"given":"R O","family":"O'Brien","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N L","family":"Taske","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P M","family":"Hansbro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K I","family":"Matthaei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S P","family":"Hogan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Denborough","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P S","family":"Foster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,11,1]]},"reference":[{"article-title":"Malignant hyperpyrexia. 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A mutation in the hcourmeadniseraysaen.oNdaitnuerereGceenpteotr1g99e3n;e5:a4s6s-o5ci0a.ted with central 10 Nakai J, Adams BA, Imoto K, Beam K. Critical roles of the S3 segment and S3-S4 linker of repeat I in activation o9f1:L1-0t1y4p-e1c8a.lcium channels. Proc NatlAcad Sci USA 1994; 11 ZhdaentgerJmFi,naEnltlsinoofrvPolTt,agAel-ddreipcehndReWn,t iTnsaicetnivaRtWio.n Minolceaclucliuamr channels. Nature 1994;372:97-100.","journal-title":"I in activation o9f1: L1-0t1y4p-e1c8a.lcium channels. Proc NatlAcad Sci USA; Nature; Critical roles of the S3 segment and S3-S4 linker of repeat"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/0003-2697(91)90297-7","article-title":"Isolation of DNA from blood","volume":"192","author":"Kendall, T.L.; Byerley, D.J.; Dean, R.","year":"1991","unstructured":"Kendall TL, Byerley DJ, Dean R. Isolation of DNA from blood. Anal Biochem 1991;192:74-6.","journal-title":"Anal Biochem"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/328313a0","article-title":"Primary structure of the receptor for calcium channel blockers from skeletal muscle","volume":"328","author":"Tanabe, T.; Takeshima, H.; Mikami, A.","year":"1987","unstructured":"Tanabe T, Takeshima H, Mikami A, et al. Primary structure of the receptor for calcium channel blockers from skeletal muscle. Nature 1987;328:313-18.","journal-title":"Nature"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1136\/bmj.2.5913.245","article-title":"Identification of susceptibility to malignant hyperpyrexia","volume":"ii:","author":"Moulds, R.F.W.; Denborough, M.A.","year":"1974","unstructured":"Moulds RFW, Denborough MA. Identification of susceptibility to malignant hyperpyrexia. BMJt 1974;ii:245-7.","journal-title":"BMJt"},{"key":"ref_8","series-title":"Proceedings ofthe IIIrd International Symposium on Malignant Hyperthermia","article-title":"Exclusion of the reported Arg 614 and Gly 341 ryanodine receptor mutations as being responsible for MHS","author":"Olckers, A.; Vita, G.M.; Rosemberg, H.; Fletcher, J.; Isaacs, H.; Levitt, R.C.","year":"1994","unstructured":"Olckers A, Vita GM, Rosemberg H, Fletcher J, Isaacs H, Levitt RC. Exclusion of the reported Arg 614 and Gly 341 ryanodine receptor mutations as being responsible for MHS in two families that map to chromosome 1 9q 1 3.1 Proceedings ofthe IIIrd International Symposium on Malignant Hyperthermia, Hiroshima, Jrapan, APP-4, 1994."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1093\/hmg\/2.7.857","article-title":"Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and ofthe oal, P1 and y subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect","volume":"2","author":"Sudbrak, R.; Golla, A.; Hogan, K.","year":"1993","unstructured":"Sudbrak R, Golla A, Hogan K, et al. Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and ofthe oal, P1 and y subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. 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