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

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

Abstract Background Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare and the associated phenotypes are variable including nonsyndromic and syndromic forms of mitochon...

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Bibliographic Details
Main Authors: Laura Kytövuori, Mikko Kärppä, Hannu Tuominen, Johanna Uusimaa, Markku Saari, Reetta Hinttala, Kari Majamaa
Format: Article
Language:English
Published: BMC 2017-05-01
Series:BMC Neurology
Subjects:
Neuromuscular disorders
Mitochondrial diseases
Cytochrome c oxidase deficiency
Case report
Online Access:http://link.springer.com/article/10.1186/s12883-017-0883-5

Internet

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

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