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Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1.
O'Donnell, Luke; Blakely, Emma L; Baty, Karen; Alexander, Michael; Bogdanova-Mihaylova, Petya; Craig, John; Walsh, Ronan; Brett, Francesca; Taylor, Robert W; Murphy, Sinead M.
Afiliação
  • O'Donnell L; Department of Neurology, Tallaght University Hospital, Tallaght, Dublin, Ireland.
  • Blakely EL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Baty K; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • Alexander M; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Bogdanova-Mihaylova P; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • Craig J; Department of Neurophysiology, Tallaght University Hospital, Tallaght, Dublin, Ireland.
  • Walsh R; Academic Unit of Neurology, Trinity College Dublin, The University of Dublin, Dublin, Ireland.
  • Brett F; Department of Neurology, Tallaght University Hospital, Tallaght, Dublin, Ireland.
  • Taylor RW; Department of Neurology, Belfast Health and Social Care Trust, Belfast, United Kingdom.
  • Murphy SM; Department of Neurology, Hermitage Medical Clinic, Dublin, Ireland.
J Neuromuscul Dis ; 7(3): 355-360, 2020.
Article em En | MEDLINE | ID: mdl-32310184
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / RNA de Transferência de Leucina / Oftalmoplegia Externa Progressiva Crônica / Deficiência de Citocromo-c Oxidase Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / RNA de Transferência de Leucina / Oftalmoplegia Externa Progressiva Crônica / Deficiência de Citocromo-c Oxidase Idioma: En Ano de publicação: 2020 Tipo de documento: Article