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A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
Uppsala University, Teknisk-naturvetenskapliga vetenskapsområdet, Chemistry, Department of Biochemistry.
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2000 (English)In: PEDIATRIC RESEARCH, ISSN 0031-3998, Vol. 48, no 3, 311-314 p.Article in journal (Refereed) Published
Abstract [en]

We describe a pathogenic mutation in the mitochondrial cytochrome b gene in a patient with a multisystem disorder presenting as histiocytoid cardiomyopathy in whom a defect of ubiquinol cytochrome c oxidonductase of the electron transport chain had been d

Place, publisher, year, edition, pages
INT PEDIATRIC RESEARCH FOUNDATION, INC , 2000. Vol. 48, no 3, 311-314 p.
Keyword [en]
FOAMY MYOCARDIAL TRANSFORMATION; SUDDEN-DEATH; ONCOCYTIC CARDIOMYOPATHY; INFANCY; GENOME; DNA
Identifiers
URN: urn:nbn:se:uu:diva-37969OAI: oai:DiVA.org:uu-37969DiVA: diva2:65868
Note
Addresses: DiMauro S, Columbia Coll Phys & Surg, H Houston Merritt Clin Res Ctr Muscular Dystrophy, Dept Neurol, 630 W 168th St, Room 4-420, New York, NY 10032 USA. Columbia Coll Phys & Surg, H Houston Merritt Clin Res Ctr Muscular Dystrophy, Dept Neurol,Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2011-01-14

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