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Phenotypic Diversiry Associated with the Mitochondrial m.8313G > A Point Mutation

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

Publication metadata

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.


DOI: 10.1002/mus.21342


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Funder referenceFunder name
074454Wellcome Trust