{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:26:50Z","timestamp":1791066410402,"version":"4.1.0"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology"],"published-print":{"date-parts":[[1998,11]]},"DOI":"10.1212\/wnl.51.5.1444","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T13:36:49Z","timestamp":1336916209000},"page":"1444-1447","source":"Crossref","is-referenced-by-count":77,"title":["Missense mutation in the mtDNA cytochrome\n            <i>b<\/i>\n            gene in a patient with myopathy"],"prefix":"10.1212","volume":"51","author":[{"given":"A. L.","family":"Andreu","sequence":"first","affiliation":[{"name":"From the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases (Drs. Andreu, Bruno, and Shanske, A. Shtilbans, and Drs. Hirano, Krishna, and DiMauro), Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY; Day Neuromuscular Research Laboratory (Drs. Hayward and Brown), Neurology Service, Massachusetts General Hospital, Boston, MA; Pulmonary and Critical Care Unit (Dr. Systrom), Massachusetts General Hospital and Harvard Medical School, Boston, MA; and..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Bruno","sequence":"additional","affiliation":[{"name":"From the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases (Drs. Andreu, Bruno, and Shanske, A. Shtilbans, and Drs. Hirano, Krishna, and DiMauro), Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY; Day Neuromuscular Research Laboratory (Drs. Hayward and Brown), Neurology Service, Massachusetts General Hospital, Boston, MA; Pulmonary and Critical Care Unit (Dr. Systrom), Massachusetts General Hospital and Harvard Medical School, Boston, MA; and..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Shanske","sequence":"additional","affiliation":[{"name":"From the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases (Drs. Andreu, Bruno, and Shanske, A. Shtilbans, and Drs. Hirano, Krishna, and DiMauro), Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY; Day Neuromuscular Research Laboratory (Drs. Hayward and Brown), Neurology Service, Massachusetts General Hospital, Boston, MA; Pulmonary and Critical Care Unit (Dr. Systrom), Massachusetts General Hospital and Harvard Medical School, Boston, MA; and..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Shtilbans","sequence":"additional","affiliation":[{"name":"From the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases (Drs. Andreu, Bruno, and Shanske, A. Shtilbans, and Drs. Hirano, Krishna, and DiMauro), Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY; Day Neuromuscular Research Laboratory (Drs. Hayward and Brown), Neurology Service, Massachusetts General Hospital, Boston, MA; Pulmonary and Critical Care Unit (Dr. Systrom), Massachusetts General Hospital and Harvard Medical School, Boston, MA; and..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Hirano","sequence":"additional","affiliation":[{"name":"From the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases (Drs. Andreu, Bruno, and Shanske, A. Shtilbans, and Drs. Hirano, Krishna, and DiMauro), Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY; Day Neuromuscular Research Laboratory (Drs. Hayward and Brown), Neurology Service, Massachusetts General Hospital, Boston, MA; Pulmonary and Critical Care Unit (Dr. Systrom), Massachusetts General Hospital and Harvard Medical School, Boston, MA; and..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Krishna","sequence":"additional","affiliation":[{"name":"From the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases (Drs. Andreu, Bruno, and Shanske, A. Shtilbans, and Drs. Hirano, Krishna, and DiMauro), Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY; Day Neuromuscular Research Laboratory (Drs. Hayward and Brown), Neurology Service, Massachusetts General Hospital, Boston, MA; Pulmonary and Critical Care Unit (Dr. Systrom), Massachusetts General Hospital and Harvard Medical School, Boston, MA; and..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Hayward","sequence":"additional","affiliation":[{"name":"From the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases (Drs. Andreu, Bruno, and Shanske, A. Shtilbans, and Drs. Hirano, Krishna, and DiMauro), Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY; Day Neuromuscular Research Laboratory (Drs. Hayward and Brown), Neurology Service, Massachusetts General Hospital, Boston, MA; Pulmonary and Critical Care Unit (Dr. Systrom), Massachusetts General Hospital and Harvard Medical School, Boston, MA; and..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. S.","family":"Systrom","sequence":"additional","affiliation":[{"name":"From the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases (Drs. Andreu, Bruno, and Shanske, A. Shtilbans, and Drs. Hirano, Krishna, and DiMauro), Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY; Day Neuromuscular Research Laboratory (Drs. Hayward and Brown), Neurology Service, Massachusetts General Hospital, Boston, MA; Pulmonary and Critical Care Unit (Dr. Systrom), Massachusetts General Hospital and Harvard Medical School, Boston, MA; and..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"R. H.","family":"Brown","sequence":"additional","affiliation":[{"name":"From the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases (Drs. Andreu, Bruno, and Shanske, A. Shtilbans, and Drs. Hirano, Krishna, and DiMauro), Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY; Day Neuromuscular Research Laboratory (Drs. Hayward and Brown), Neurology Service, Massachusetts General Hospital, Boston, MA; Pulmonary and Critical Care Unit (Dr. Systrom), Massachusetts General Hospital and Harvard Medical School, Boston, MA; and..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"DiMauro","sequence":"additional","affiliation":[{"name":"From the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases (Drs. Andreu, Bruno, and Shanske, A. Shtilbans, and Drs. Hirano, Krishna, and DiMauro), Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY; Day Neuromuscular Research Laboratory (Drs. Hayward and Brown), Neurology Service, Massachusetts General Hospital, Boston, MA; Pulmonary and Critical Care Unit (Dr. Systrom), Massachusetts General Hospital and Harvard Medical School, Boston, MA; and..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_1_2_2","unstructured":"DiMauro S Bonilla E. Mitochondrial encephalomyopathies. In: Rosenberg RN Prusiner SB DiMauro S Barchi RL eds. The molecular and genetic basis of neurological disease. 2nd ed. Boston: Butterworth-Heinemann 1997:201-235."},{"key":"e_1_3_1_3_2","first-page":"1","volume":"18","year":"1995","unstructured":"Arnold D, Mathews PM, Radda GK. Investigation of human mitochondrial myopathies by phosphorus magnetic resonance spectroscopy. Ann Neurol 1995;18:189-196.","journal-title":"Ann Neurol"},{"key":"e_1_3_1_4_2","first-page":"4","volume":"290","year":"1980","unstructured":"Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1980;290:457-465.","journal-title":"Nature"},{"key":"e_1_3_1_5_2","first-page":"3","volume":"44","year":"1989","unstructured":"Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 1989;44:388-396.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_1_6_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116550"},{"key":"e_1_3_1_7_2","first-page":"2","volume":"4","year":"1993","unstructured":"Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Schon EA, DiMauro S. A mitochondrial tRNA anticodon swap associated with a muscle disease. Nat Genet 1993;4:284-287.","journal-title":"Nat Genet"},{"key":"e_1_3_1_8_2","first-page":"3","volume":"10","year":"1996","unstructured":"Dumoulin R, Sagnol I, Ferlin T, Bozon D, Stepien G, Mousson B. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol Cell Probes 1996;10:389-391.","journal-title":"Mol Cell Probes"},{"key":"e_1_3_1_9_2","first-page":"4","volume":"63","year":"1998","unstructured":"Kennaway NG, Keightley JA, Burton MD, Quan F, Libby BD, Buist NRM. Mitochondrial encephalomyopathy associated with a nonsense mutation in cytochrome b. Mol Genet Metab 1998;63:49. Abstract.","journal-title":"Mol Genet Metab"},{"key":"e_1_3_1_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02106175"},{"key":"e_1_3_1_11_2","first-page":"2","volume":"1143","year":"1993","unstructured":"Degli-Esposti M, De Vries S, Crimi M, Ghelli A, Patarnello T, Meyer A. Mitochondrial cytochrome b: evolution and structure of the protein. Biochim Biophys Acta 1993;1143:243-271.","journal-title":"Biochim Biophys Acta"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.51.5.1444","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T16:15:31Z","timestamp":1711556131000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.51.5.1444"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,11]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1998,11]]}},"alternative-id":["10.1212\/WNL.51.5.1444"],"URL":"https:\/\/doi.org\/10.1212\/wnl.51.5.1444","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,11]]}}}