Lookup NU author(s): Dr Mazhor Aldosary,
Dr Roger Whittaker,
Professor Bobby McFarland,
Professor Judith Goodship,
Professor Doug Turnbull,
Professor Robert Taylor
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
An extensive range of molecular defects have been identified in the human mitochondrial genome (mtDNA), many associated with well-characterised, progressive neurological syndromes. We describe a patient who presented to a mitochondrial clinic with progressive bilateral ptosis, external opthalmoplegia and increasing difficulty with walking. He had previously been diagnosed with a dominant, demyelinating polyneuropathy due to PMP22 gene duplication and had also developed gout, presenting in acute renal failure, due to an X-linked recessive HPRT gene mutation. Muscle biopsy revealed many COX-deficient fibres which we show contain high levels of a third genetic defect - a novel, mitochondrial tRNA(Leu(CUN)) (MTTL2) gene mutation. (C) 2009 Elsevier B.V. All rights reserved.
Author(s): Al-Dosary M, Whittaker RG, Haughton J, McFarland R, Goodship J, Turnbull DM, Taylor RW
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
Altmetrics provided by Altmetric