The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype (2010)

Author(s): Alston CL, Bender A, Hargreaves IP, Mundy H, Deshpande C, Klopstock T, McFarland R, Horvath R, Taylor RW

      • Date: 14-05-2010
      • Journal: Neuromuscular Disorders
      • Volume: 20
      • Issue: 6
      • Pages: 403-406
      • Publisher: Elsevier Ltd.
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Mitochondrial DNA m.3243 CPEO Pathogenicity Single fibres HUMAN-DISEASE MTDNA DIAGNOSIS CELLS


      Charlotte Alston
      Associate Researcher

      Dr Bobby McFarland
      Clinical Senior Lecturer and Hon Consultant Paediatric Neurologist