Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing m...
Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder
About this item
Full title
Author / Creator
Publisher
England: BioMed Central
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central
Subjects
More information
Scope and Contents
Contents
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 diseases.
We describe a 30-year-old man with cognitive declin...
Alternative Titles
Full title
Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_5744b13c908949dbb28a0b71f16b9a68
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5744b13c908949dbb28a0b71f16b9a68
Other Identifiers
ISSN
1471-2377
E-ISSN
1471-2377
DOI
10.1186/s12883-017-0883-5
