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Lookup NU author(s): Dr Mark Buddles, Emeritus Professor Doug Turnbull, Professor Robert Taylor
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We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNA(Lys)(MTTK) gene. The clinical features in this case are severe, including short stature, myopathy, peripheral neuropathy, and osteoporosis, while extensive analysis of maternal relatives indicate that the mutation has arisen de novo and was not maternally inherited. This report of a second case, together with single muscle fiber mutation analysis that shows clear segregation of mutation load with cytochrome c oxidase deficiency, confirms that the mutation is pathologic. Muscle Nerve 40: 648-651, 2009
Author(s): O'Rourke K, Buddles MR, Farrell M, Howley R, Sukuraman S, Connolly S, Turnbull DM, Hutchinson M, Taylor RW
Publication type: Article
Publication status: Published
Journal: Muscle & Nerve
Year: 2009
Volume: 40
Issue: 4
Pages: 648-651
ISSN (print): 0148-639X
ISSN (electronic): 1097-4598
Publisher: John Wiley & Sons, Inc.
URL: http://dx.doi.org/10.1002/mus.21342
DOI: 10.1002/mus.21342
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