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Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.

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Title: Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
Authors: Major TC; School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Arany ES; School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Schon K; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Department of Clinical Genetics, East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, United Kingdom., Simo M; University Clinic of Neurology, Semmelweis University, Budapest, Hungary., Karcagi V; Istenhegyi Genetic Diagnostic Center, Budapest, Hungary., van den Ameele J; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Yu Wai Man P; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; NIHR Biomedical Research Centre, Moorfields Eye Hospital & UCL Institute of Ophthalmology, London, United Kingdom.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, United Kingdom., Chinnery PF; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Olimpio C; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Department of Clinical Genetics, East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, United Kingdom., Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.
Source: Frontiers in neurology [Front Neurol] 2023 Dec 01; Vol. 14, pp. 1292320. Date of Electronic Publication: 2023 Dec 01 (Print Publication: 2023).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
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  Data: <searchLink fieldCode="AU" term="%22Major+TC%22">Major TC</searchLink>; School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Arany+ES%22">Arany ES</searchLink>; School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Schon+K%22">Schon K</searchLink>; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Department of Clinical Genetics, East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Simo+M%22">Simo M</searchLink>; University Clinic of Neurology, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Karcagi+V%22">Karcagi V</searchLink>; Istenhegyi Genetic Diagnostic Center, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22van+den+Ameele+J%22">van den Ameele J</searchLink>; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Yu+Wai+Man+P%22">Yu Wai Man P</searchLink>; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; NIHR Biomedical Research Centre, Moorfields Eye Hospital & UCL Institute of Ophthalmology, London, United Kingdom.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chinnery+PF%22">Chinnery PF</searchLink>; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Olimpio+C%22">Olimpio C</searchLink>; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Department of Clinical Genetics, East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Horvath+R%22">Horvath R</searchLink>; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.
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  Data: <searchLink fieldCode="JN" term="%22101546899%22">Frontiers in neurology</searchLink> [Front Neurol] 2023 Dec 01; Vol. 14, pp. 1292320. <i>Date of Electronic Publication: </i>2023 Dec 01 (<i>Print Publication: </i>2023).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101546899 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-2295 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216642295%22">16642295 </searchLink><i>NLM ISO Abbreviation: </i>Front Neurol <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3389/fneur.2023.1292320
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              Text: 2023 Dec 01
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