Publication:

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy (2010)

Author(s): Alston CL, Morak M, Reid C, Hargreaves IP, Pope SAS, Land JM, Heales SJ, Horvath R, Mundy H, Taylor RW

      • Date: 01-02-2010
      • Journal: Neuromuscular Disorders
      • Volume: 20
      • Issue: 2
      • Pages: 131-135
      • Publisher: Elsevier Ltd
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Mitochondrial DNA Complex I Frameshift mutation Myopathy Heteroplasmy LEIGH-SYNDROME G13513A MUTATION DNA MUTATIONS ND3 GENE DISEASE MELAS ENCEPHALOPATHY SEQUENCE

      Staff

      Dr Rita Horvath
      Senior Lecturer/Honorary Consultant