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Neuromuscular disease presentation with three genetic defects involving two genomes

Lookup NU author(s): Dr Mazhor Aldosary, Professor Roger Whittaker, Professor Bobby McFarlandORCiD, Professor Judith Goodship, Emeritus Professor Doug Turnbull, Professor Robert Taylor


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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.

Publication metadata

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

Year: 2009

Volume: 19

Issue: 12

Pages: 841-844

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd


DOI: 10.1016/j.nmd.2009.10.001


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