pubmed-article:10590411 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:10590411 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
pubmed-article:10590411 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:10590411 | lifeskim:mentions | umls-concept:C0006556 | lld:lifeskim |
pubmed-article:10590411 | lifeskim:mentions | umls-concept:C0231220 | lld:lifeskim |
pubmed-article:10590411 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
pubmed-article:10590411 | lifeskim:mentions | umls-concept:C1420102 | lld:lifeskim |
pubmed-article:10590411 | lifeskim:mentions | umls-concept:C1159626 | lld:lifeskim |
pubmed-article:10590411 | pubmed:issue | 1 | lld:pubmed |
pubmed-article:10590411 | pubmed:dateCreated | 2000-1-20 | lld:pubmed |
pubmed-article:10590411 | pubmed:abstractText | We identified 5 patients with subnormal erythrocyte lactate transport plus symptoms and signs of muscle injury on exercise and heat exposure. All had transport rates below the 95% envelope for normals. Three cases had rates 40-50% of mean normal. One was found to have a missense mutation in monocarboxylate transporter 1 (MCT1), the gene for the red cell lactate transporter (also expressed in skeletal muscle), at a conserved site, which was not mutated in a cohort of 90 normal humans. The other 2 cases had a different missense mutation (at a nonconserved site), which was also not mutated in the normal cohort. All 3 patients were heterozygotes. We presume that these mutations are responsible for their subnormal lactate transport, and hence their muscle injury under environmental stress; homozygous patients should be more seriously compromised. The other 2 cases had lactate transport rates 60-65% of mean normal, and their MCT1 revealed a third mutation, which proved to be a common polymorphism in the normal cohort. These 2 patients may be physiologic outliers in lactate transport, with their muscle damage arising from some other genetic defect. | lld:pubmed |
pubmed-article:10590411 | pubmed:language | eng | lld:pubmed |
pubmed-article:10590411 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:10590411 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:10590411 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:10590411 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:10590411 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:10590411 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:10590411 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:10590411 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:10590411 | pubmed:month | Jan | lld:pubmed |
pubmed-article:10590411 | pubmed:issn | 0148-639X | lld:pubmed |
pubmed-article:10590411 | pubmed:author | pubmed-author:FishbeinW NWN | lld:pubmed |
pubmed-article:10590411 | pubmed:author | pubmed-author:DavisJ IJI | lld:pubmed |
pubmed-article:10590411 | pubmed:author | pubmed-author:FoellmerJ WJW | lld:pubmed |
pubmed-article:10590411 | pubmed:author | pubmed-author:Merezhinskaya... | lld:pubmed |
pubmed-article:10590411 | pubmed:copyrightInfo | Copyright 2000 John Wiley & Sons, Inc. | lld:pubmed |
pubmed-article:10590411 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:10590411 | pubmed:volume | 23 | lld:pubmed |
pubmed-article:10590411 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:10590411 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:10590411 | pubmed:pagination | 90-7 | lld:pubmed |
pubmed-article:10590411 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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pubmed-article:10590411 | pubmed:year | 2000 | lld:pubmed |
pubmed-article:10590411 | pubmed:articleTitle | Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. | lld:pubmed |
pubmed-article:10590411 | pubmed:affiliation | Biochemical Pathology Division, Environmental Pathology Department, Room M093C, Armed Forces Institute of Pathology, Washington, DC 20306-6000, USA. | lld:pubmed |
pubmed-article:10590411 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:10590411 | pubmed:publicationType | Clinical Trial | lld:pubmed |
pubmed-article:10590411 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
literatureCitation:738_1059... | literatureCitation:pubmed | pubmed-article:10590411 | lld:drugbank |
entrez-gene:6566 | entrezgene:pubmed | pubmed-article:10590411 | lld:entrezgene |