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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2004-6-22
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pubmed:abstractText |
SCO2 is a cytochrome c oxidase (COX) assembly gene that encodes a mitochondrial inner membrane protein that probably functions as a copper transporter. Mutations in SCO2 have been associated with severe COX deficiency and early-onset fatal infantile hypertrophic cardiomyopathy, encephalopathy, and neurogenic muscle atrophy. Fetal wastage has not been described in association with mutations of SCO2.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0003-9942
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
61
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
950-2
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pubmed:dateRevised |
2009-11-3
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pubmed:meshHeading |
pubmed-meshheading:15210538-Aborted Fetus,
pubmed-meshheading:15210538-Abortion, Spontaneous,
pubmed-meshheading:15210538-Carrier Proteins,
pubmed-meshheading:15210538-DNA Mutational Analysis,
pubmed-meshheading:15210538-Electron Transport Complex IV,
pubmed-meshheading:15210538-Fatal Outcome,
pubmed-meshheading:15210538-Female,
pubmed-meshheading:15210538-Humans,
pubmed-meshheading:15210538-Mitochondrial Proteins,
pubmed-meshheading:15210538-Mutation,
pubmed-meshheading:15210538-Protein Processing, Post-Translational,
pubmed-meshheading:15210538-Proteins
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pubmed:year |
2004
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pubmed:articleTitle |
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
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pubmed:affiliation |
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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