{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T17:50:48Z","timestamp":1790704248371,"version":"4.1.0"},"reference-count":6,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,8,14]],"date-time":"2014-08-14T00:00:00Z","timestamp":1407974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>The acronym \u201cMELAS\u201d (mitochondrial encephalomyopathy with lactic acidosis and stroke\u2010like episodes) denotes patients with histological, biochemical and\/or molecular evidence of mitochondrial disease who experience stroke\u2010like episodes. Here we report on a girl with repeated stroke\u2010like episodes and status epilepticus, who was diagnosed with MELAS due to a novel mitochondrial cytochrome b gene (<jats:italic>MTCYB<\/jats:italic>) mutation (m.15092G&gt;A, which predicts p.G116S). Western blotting and in silico analyses suggested that this mutation could affect the stability of complex III. Cytochrome b is the only mtDNA\u2010encoded subunit of respiratory chain complex III. Mutations in <jats:italic>MTCYB<\/jats:italic> have been associated with isolated mitochondrial myopathy and exercise intolerance, and rarely with multisystem and\/or central nervous system involvement. If the m.3243A&gt;G and other common MELAS mutations are absent in several tissues, <jats:italic>MTCYB<\/jats:italic> should be sequenced from muscle in patients with stroke\u2010like episodes, especially if muscle histology does not support a mitochondrial myopathy and lactic acidosis is absent. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36725","type":"journal-article","created":{"date-parts":[[2014,8,14]],"date-time":"2014-08-14T21:04:09Z","timestamp":1408050249000},"page":"2922-2925","source":"Crossref","is-referenced-by-count":6,"title":["Novel <i>MTCYB<\/i> mutation in a young patient with recurrent stroke\u2010like episodes and status epilepticus"],"prefix":"10.1002","volume":"164","author":[{"given":"Michelangelo","family":"Mancuso","sequence":"first","affiliation":[{"name":"Department of Experimental and Clinical Medicine Neurological Clinic University of Pisa Via Roma 67 Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Nesti","sequence":"additional","affiliation":[{"name":"Molecular Medicine IRCCS Stella Maris Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena Caldarazzo","family":"Ienco","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine Neurological Clinic University of Pisa Via Roma 67 Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Orsucci","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine Neurological Clinic University of Pisa Via Roma 67 Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Pizzanelli","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine Neurological Clinic University of Pisa Via Roma 67 Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Chiti","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine Neurological Clinic University of Pisa Via Roma 67 Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo S","family":"Giorgi","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine Neurological Clinic University of Pisa Via Roma 67 Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Chiara","family":"Meschini","sequence":"additional","affiliation":[{"name":"Molecular Medicine IRCCS Stella Maris Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Fontanini","sequence":"additional","affiliation":[{"name":"Department of Surgery Division of Pathological Anatomy University of Pisa Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Molecular Medicine IRCCS Stella Maris Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Logerfo","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine Neurological Clinic University of Pisa Via Roma 67 Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Romano","sequence":"additional","affiliation":[{"name":"Department of Biological and Environmental Sciences and Technologies University of Salento Lecce Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Siciliano","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine Neurological Clinic University of Pisa Via Roma 67 Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ubaldo","family":"Bonuccelli","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Medicine Neurological Clinic University of Pisa Via Roma 67 Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,14]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199901)45:1<130::AID-ART21>3.0.CO;2-Z"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812445787"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-7225-3"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.2174\/156652409789839099"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21649"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2010.08.065"}],"container-title":["American Journal of Medical Genetics Part 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