Your browser doesn't support javascript.
loading
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Bacalhau, Mafalda; Simões, Marta; Rocha, Mariana C; Hardy, Steven A; Vincent, Amy E; Durães, João; Macário, Maria C; Santos, Maria João; Rebelo, Olinda; Lopes, Carla; Pratas, João; Mendes, Cândida; Zuzarte, Mónica; Rego, A Cristina; Girão, Henrique; Wong, Lee-Jun C; Taylor, Robert W; Grazina, Manuela.
Affiliation
  • Bacalhau M; FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal.
  • Simões M; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal.
  • Rocha MC; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle Upon Tyne, UK.
  • Hardy SA; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle Upon Tyne, UK.
  • Vincent AE; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle Upon Tyne, UK.
  • Durães J; CHUC - Neurology Department of Coimbra University Hospitals, Coimbra, Portugal.
  • Macário MC; CHUC - Neurology Department of Coimbra University Hospitals, Coimbra, Portugal.
  • Santos MJ; FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal.
  • Rebelo O; CHUC - Neurology Department of Coimbra University Hospitals, Coimbra, Portugal.
  • Lopes C; CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
  • Pratas J; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal.
  • Mendes C; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal.
  • Zuzarte M; IBILI - Institute for Biomedical Imaging and Life Sciences, University of Coimbra, Coimbra, Portugal.
  • Rego AC; FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
  • Girão H; FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; IBILI - Institute for Biomedical Imaging and Life Sciences, University of Coimbra, Coimbra, Portugal.
  • Wong LC; Mitochondrial Diagnostic Laboratory, Baylor College of Medicine, Houston, USA.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle Upon Tyne, UK.
  • Grazina M; FMUC - Faculty of Medicine, University of Coimbra, Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics, University of Coimbra, Coimbra, Portugal. Electronic address: mgrazina.fmuc@gmail.com.
Neuromuscul Disord ; 28(4): 350-360, 2018 04.
Article in En | MEDLINE | ID: mdl-29398297
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Succinate Dehydrogenase / DNA, Mitochondrial / Sequence Deletion / Mutation Limits: Female / Humans / Middle aged Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2018 Document type: Article Affiliation country: Portugal Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Succinate Dehydrogenase / DNA, Mitochondrial / Sequence Deletion / Mutation Limits: Female / Humans / Middle aged Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2018 Document type: Article Affiliation country: Portugal Country of publication: United kingdom