{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:14:57Z","timestamp":1790720097932,"version":"4.1.0"},"reference-count":36,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2012,5,25]],"date-time":"2012-05-25T00:00:00Z","timestamp":1337904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2013,2]]},"abstract":"<jats:p>Mutations in the mitochondrial DNA cytochrome b gene ( MTCYB) have been commonly associated with isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders, and only once with a parkinsonism\/mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) overlap syndrome. Here, we describe a novel mutation (m.14864 T&gt;C) in MTCYB in a 15-year-old girl with a clinical history of migraines, epilepsy, sensorimotor neuropathy, and strokelike episodes, a clinical picture reminiscent of MELAS.\u00a0 The mutation, which changes a highly conserved cysteine to arginine at amino acid position 40 of cytochrome b, was heteroplasmic in muscle, blood, fibroblasts, and urinary sediment from the patient but absent in accessible tissues from her asymptomatic mother. This case demonstrates that MTCYB must be included in the already long list of mitochondrial DNA genes that have been associated with the MELAS phenotype.<\/jats:p>","DOI":"10.1177\/0883073812445787","type":"journal-article","created":{"date-parts":[[2012,5,26]],"date-time":"2012-05-26T00:34:30Z","timestamp":1337992470000},"page":"236-242","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":45,"title":["A Novel Mutation in the Mitochondrial DNA Cytochrome\n                    <i>b<\/i>\n                    Gene (\n                    <i>MTCYB)<\/i>\n                    in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome"],"prefix":"10.1177","volume":"28","author":[{"given":"Valentina","family":"Emmanuele","sequence":"first","affiliation":[{"name":"Department of Neurology, Columbia University Medical Center, New York, NY, USA"},{"name":"Pediatric Clinic, University of Genoa, IRCCS G. Gaslini Institute, Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelia","family":"Sotiriou","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Purificaci\u00f3n Gutierrez","family":"Rios","sequence":"additional","affiliation":[{"name":"Department of Neurology, Columbia University Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaya","family":"Ganesh","sequence":"additional","affiliation":[{"name":"Section of Metabolic Disease, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Ichord","sequence":"additional","affiliation":[{"name":"Department of Neurology and Pediatrics, The Children\u2019s Hospital of Philadelphia and Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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