{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["7(12)"],"submitter":["Kytovuori L"],"funding":["Stiftelsen Dorothea Olivia, Karl Walter och Jarl Walter Perkléns Minne","Sigrid Juséliuksen Säätiö"],"pubmed_abstract":["<h4>Objectives</h4>Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The <i>MT-TS1</i> gene is a hotspot for mutations causing HI. The m.7510T>C mutation in <i>MT-TS1</i> has been previously associated with non-syndromic HI in four families from different ethnic backgrounds.<h4>Materials and methods</h4>We describe the clinical, genetic, and histopathological findings in a Finnish family with the heteroplasmic m.7510T>C mutation in mitochondrial DNA.<h4>Results</h4>The family proband presented with a progressive mitochondrial disease phenotype including migraine, epilepsy, mild ataxia, and cognitive impairment in addition to HI. One young adult presented with HI only. Other family members had a mil"],"journal":["Brain and behavior"],"pagination":["e00859"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5745241"],"repository":["biostudies-literature"],"pubmed_title":["The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype."],"pmcid":["PMC5745241"],"pubmed_authors":["Gardberg M","Majamaa K","Kytovuori L","Martikainen MH"],"additional_accession":[]},"is_claimable":false,"name":"The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.","description":"<h4>Objectives</h4>Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The <i>MT-TS1</i> gene is a hotspot for mutations causing HI. The m.7510T>C mutation in <i>MT-TS1</i> has been previously associated with non-syndromic HI in four families from different ethnic backgrounds.<h4>Materials and methods</h4>We describe the clinical, genetic, and histopathological findings in a Finnish family with the heteroplasmic m.7510T>C mutation in mitochondrial DNA.<h4>Results</h4>The family proband presented with a progressive mitochondrial disease phenotype including migraine, epilepsy, mild ataxia, and cognitive impairment in addition to HI. One young adult presented with HI only. Other family members had a mil","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Dec","modification":"2026-05-02T09:25:17.688Z","creation":"2019-03-27T03:05:52Z"},"accession":"S-EPMC5745241","cross_references":{"pubmed":["29299381"],"doi":["10.1002/brb3.859"]}}