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Lookup NU author(s): Professor Robert Taylor
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We describe a patient with isolated exercise intolerance caused by a new, maternally inherited mutation in mitochondrial DNA. The heteroplasmic T>C transition at position 13271 in MTND5 affects a highly conserved base and segregates with the disease, being present at highest levels in skeletal muscle fibres showing abnormal mitochondrial accumulation. This is the 15th mutation affecting the MTND5 subunit of respiratory chain complex I and confirms this protein as an important site for disease with phenotypes ranging from MELAS and infantile encephalopathies to isolated syndromes affecting a single tissue such as Leber hereditary optic neuropathy and now skeletal muscle. © 2008 Elsevier B.V. All rights reserved.
Author(s): Downham E, Winterthun S, Nakkestad HL, Hirth A, Halvorsen T, Taylor RW, Bindoff LA
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
PubMed id: 18396045
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