{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T12:34:42Z","timestamp":1776861282593,"version":"3.51.2"},"reference-count":30,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,11,19]],"date-time":"2017-11-19T00:00:00Z","timestamp":1511049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010119","name":"Stiftelsen Dorothea Olivia, Karl Walter och Jarl Walter Perkl\u00e9ns Minne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010119","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2017,12]]},"abstract":"Abstract<\/jats:title>Objectives<\/jats:title>Mutations in mitochondrial DNA<\/jats:styled-content> cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI<\/jats:styled-content>) to severe encephalomyopathy. The MT<\/jats:styled-content>\u2010TS<\/jats:styled-content>1<\/jats:italic> gene is a hotspot for mutations causing HI<\/jats:styled-content>. The m.7510T>C mutation in MT<\/jats:styled-content>\u2010TS<\/jats:styled-content>1<\/jats:italic> has been previously associated with non\u2010syndromic HI<\/jats:styled-content> in four families from different ethnic backgrounds.<\/jats:p><\/jats:sec>Materials and Methods<\/jats:title>We describe the clinical, genetic, and histopathological findings in a Finnish family with the heteroplasmic m.7510T>C mutation in mitochondrial DNA<\/jats:styled-content>.<\/jats:p><\/jats:sec>Results<\/jats:title>The family proband presented with a progressive mitochondrial disease phenotype including migraine, epilepsy, mild ataxia, and cognitive impairment in addition to HI<\/jats:styled-content>. One young adult presented with HI<\/jats:styled-content> only. Other family members had a mild phenotype comprising ataxia and tremor in addition to HI<\/jats:styled-content>. Mutation heteroplasmy was 90% in the blood of maternal grandmother and \u226599% in the muscle and blood of the three other family members. Muscle histology was consistent with mitochondrial myopathy in three family members. The mitochondrial haplogroup of the family was a different branch of the haplogroup H than in the previous reports of this mutation.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Our results suggest that, in addition to sensorineural HI<\/jats:styled-content>, the m.7510T>C mutation is associated with a spectrum of mitochondrial disease clinical features including migraine, epilepsy, cognitive impairment, ataxia, and tremor, and with evidence of mitochondrial myopathy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.859","type":"journal-article","created":{"date-parts":[[2017,11,20]],"date-time":"2017-11-20T01:16:40Z","timestamp":1511140600000},"source":"Crossref","is-referenced-by-count":9,"title":["The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype"],"prefix":"10.1002","volume":"7","author":[{"given":"Laura","family":"Kyt\u00f6vuori","sequence":"first","affiliation":[{"name":"Research Unit of Clinical Neuroscience University of Oulu Oulu Finland"},{"name":"Medical Research Center Oulu Oulu University Hospital and University of Oulu Oulu Finland"},{"name":"Department of Neurology Oulu University Hospital Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Gardberg","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Turku and Turku University Hospital Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kari","family":"Majamaa","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Neuroscience University of Oulu Oulu Finland"},{"name":"Medical Research Center Oulu Oulu University Hospital and University of Oulu Oulu Finland"},{"name":"Department of Neurology Oulu University Hospital Oulu Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7604-8081","authenticated-orcid":false,"given":"Mika 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