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Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

Lookup NU author(s): Adillah Binti Yusof, Dr Julie Murphy, Dr Gavin Hudson, Emeritus Professor Doug Turnbull, Professor Robert Taylor


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Mitochondrial DNA depletion syndromes are a heterogeneous group of childhood neurological disorders characterised by a quantitative abnormality of mitochondrial DNA. We describe two siblings who presented at 8 months and 14 months with myopathy, which rapidly progressed and resulted in death by respiratory failure at age 14 and 18 months, respectively. Muscle biopsy revealed marked respiratory chain defects, with real-time PCR confirming a dramatic depletion of mitochondrial DNA. Sequencing of the thymidine kinase 2 (TK2) gene revealed two, novel heterozygous mutations (p.Q87X and p.N100S) with parental DNA analysis confirming the transmission of mutated alleles. © 2008 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Blakely E, He L, Gardner JL, Hudson G, Walter J, Hughes I, Turnbull DM, Taylor RW

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2008

Volume: 18

Issue: 7

Pages: 557-560

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd.


DOI: 10.1016/j.nmd.2008.04.014

Notes: Co-author JL Gardner now publishes as JL Murphy.


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Funder referenceFunder name
074454Wellcome Trust