{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T15:39:31Z","timestamp":1781883571600,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":3660,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1994,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We identified two new mutations in 2 white patients with muscle lactate dehydrogenase deficiency. Both patients had exercise intolerance, cramps, and recurrent myoglobinuria. One patient was homozygous for a 2\u2010bp deletion in exon 5, resulting in a frameshift with premature termination of translation. The second patient was homozygous for a G \u2192 A substitution at the 3\u2032 end of exon 2, leading to exon skipping and splicing of exon 1 to exon 3; the aberrantly spliced messenger RNA contains a frameshift, resulting in premature termination of translation. The present report provides evidence of molecular genetic heterogeneity in white patients with muscle lactate dehydrogenase deficiency.<\/jats:p>","DOI":"10.1002\/ana.410360418","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:06:34Z","timestamp":1104595594000},"page":"661-665","source":"Crossref","is-referenced-by-count":40,"title":["Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients"],"prefix":"10.1002","volume":"36","author":[{"given":"Seiichi","family":"Tsujino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Shanske","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Keith W.","family":"Brownell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald G.","family":"Haller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"DiMauro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1138367"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1985.tb08711.x"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj2310537"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.6.2182"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90013-3"},{"key":"e_1_2_1_7_2","first-page":"1204","article-title":"Estimation of the gene frequency of lactate dehydrogenase subunit deficiencies","volume":"36","author":"Maekawa M","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(88)90359-2"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.7.1414"},{"issue":"1","key":"e_1_2_1_10_2","first-page":"203","article-title":"Muscle lactate dehydrogenase deficiency: a disorder of anaerobic glycogenolysis associated with exertionalmyoglobinuria","volume":"40","author":"Bryan W","year":"1990","journal-title":"Neurology"},{"key":"e_1_2_1_11_2","first-page":"1554","volume-title":"Myology","author":"DiMauro S","year":"1994"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(90)92374-9"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00204925"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(05)81177-5"},{"key":"e_1_2_1_15_2","first-page":"44","article-title":"Three new mutations in patients with myophosphorylase deficiency (McArdle disease)","volume":"54","author":"Tsujino S","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210743"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410360418","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410360418","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T03:45:56Z","timestamp":1698205556000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410360418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,10]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,10]]}},"alternative-id":["10.1002\/ana.410360418"],"URL":"https:\/\/doi.org\/10.1002\/ana.410360418","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,10]]}}}