Published in
American Academy of Neurology (AAN), Neurology, 23(81), p. 2051-2053, 2013
DOI: 10.1212/01.wnl.0000436931.94291.e6
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- American Academy of Neurology (AAN)
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
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Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions
Journal article published in 2013 by
Charlotte L. Alston,
Andrew M. Schaefer,
Pravrutha Raman 
,
Nicola Solaroli,
Kim J. Krishnan,
Emma L. Blakely,
Langping He,
Kate Craig,
Mark Roberts,
Aashish Vyas,
John Nixon,
Rita Horvath ,
Douglass M. Turnbull,
Anna Karlsson,
Grainne S. Gorman
and other authors.
,
Nicola Solaroli,
Kim J. Krishnan,
Emma L. Blakely,
Langping He,
Kate Craig,
Mark Roberts,
Aashish Vyas,
John Nixon,
Rita Horvath ,
Douglass M. Turnbull,
Anna Karlsson,
Grainne S. Gorman
and other authors.
This paper is available in a repository.
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Abstract
Mutations in nuclear genes involved in the maintenance of mitochondrial DNA (mtDNA) are associated with an extensive spectrum of clinical phenotypes, manifesting as either mtDNA depletion syndromes or multiple mtDNA deletion disorders.1