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A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.
Zierz, Charlotte M; Baty, Karen; Blakely, Emma L; Hopton, Sila; Falkous, Gavin; Schaefer, Andrew M; Hadjivassiliou, Marios; Sarrigiannis, Ptolemaios G; Ng, Yi Shiau; Taylor, Robert W.
Afiliación
  • Zierz CM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. CharlotteZierz@web.de.
  • Baty K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. karen.baty@nuth.nhs.uk.
  • Blakely EL; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. karen.baty@nuth.nhs.uk.
  • Hopton S; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. emma.watson@nuth.nhs.uk.
  • Falkous G; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. emma.watson@nuth.nhs.uk.
  • Schaefer AM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. sila.hopton@ncl.ac.uk.
  • Hadjivassiliou M; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. sila.hopton@ncl.ac.uk.
  • Sarrigiannis PG; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. gavin.falkous@nuth.nhs.uk.
  • Ng YS; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, UK. gavin.falkous@nuth.nhs.uk.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. andrew.schaefer@nuth.nhs.uk.
J Clin Med ; 8(6)2019 Jun 04.
Article en En | MEDLINE | ID: mdl-31167410
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: J Clin Med Año: 2019 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: J Clin Med Año: 2019 Tipo del documento: Article