Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder-Reference-Cited by-同舟云学术

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Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

Published:2017-05-18 Issue:1 Volume:17 Page:
ISSN:1471-2377
Container-title:BMC Neurology
language:en
Short-container-title:BMC Neurol

Author:

Kytövuori Laura^ORCID,Kärppä Mikko,Tuominen Hannu,Uusimaa Johanna,Saari Markku,Hinttala Reetta,Majamaa Kari

Funder

Medical Research Center, University of Oulu and Oulu University Hospital

Sigrid Juséliuksen Säätiö

State Research Funding Oulu University Hospital

Biotieteiden ja Ympäristön Tutkimuksen Toimikunta (FI)

Biotieteiden ja Ympäristön Tutkimuksen Toimikunta

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12883-017-0883-5.pdf

Reference21 articles.

1. Wong LJ, Dai P, Tan D, Lipson M, Grix A, Sifry-Platt M, et al. Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II. Am J Med Genet. 2001;102:95–9.

2. Rossmanith W, Freilinger M, Roka J, Raffelsberger T, Moser-Their K, Prayer D, et al. Isolated cytochrome c oxidase deficiency as a cause of MELAS. J Med Genet. 2008;45:117–21.

3. Horváth R, Schoser BG, Müller-Höcker J, Volpel M, Jaksch M, Lochmüller H. Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy. Neuromuscul Disord. 2005;15:851–7.

4. McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscul Disord. 2004;14:162–6.

5. Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, et al. Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet. 2008;82:1281–9.

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