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

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 mitochondrial di...

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Bibliografiske detaljer
Udgivet i:BMC Neurol
Main Authors: Kytövuori, Laura, Kärppä, Mikko, Tuominen, Hannu, Uusimaa, Johanna, Saari, Markku, Hinttala, Reetta, Majamaa, Kari
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5437394/
https://ncbi.nlm.nih.gov/pubmed/28521807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-017-0883-5
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