Number of the records: 1  

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

  1. 1.
    SYSNO ASEP0355558
    Document TypeJ - Journal Article
    R&D Document TypeJournal Article
    Subsidiary JČlánek ve WOS
    TitleMitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
    Author(s) Honzík, T. (CZ)
    Tesařová, M. (CZ)
    Mayr, J. A. (AT)
    Hansíková, H. (CZ)
    Ješina, P. (CZ)
    Bodamer, O. (AT)
    Koch, J. (AT)
    Magner, M. (CZ)
    Freisinger, P. (DE)
    Huemer, M. (AT)
    Kostková, O. (CZ)
    Van Coster, R. (BE)
    Kmoch, S. (CZ)
    Houštěk, Josef (FGU-C) RID, ORCID
    Sperl, W. (AT)
    Zeman, J. (CZ)
    Source TitleArchives of Disease in Childhood - ISSN 0003-9888
    Roč. 95, č. 4 (2010), s. 296-301
    Number of pages6 s.
    Languageeng - English
    CountryGB - United Kingdom
    KeywordsTMEM70 ; ATP synthase ; mitochondrial disease
    Subject RIVFG - Pediatrics
    R&D ProjectsNS9759 GA MZd - Ministry of Health (MZ)
    1M0520 GA MŠMT - Ministry of Education, Youth and Sports (MEYS)
    CEZAV0Z50110509 - FGU-C (2005-2011)
    UT WOS000275928900013
    DOI10.1136/adc.2009.168096
    AnnotationMulti-site survey characterization of a natural course of a novel mitochondrial disease. ATP synthase deficiency with mutation in TMEM70 should be considered in diagnostics and management of critically ill neonates with early neonatal onset of muscular hypotonia, hypertrophic cardiomyopathy and hypospadias in boys accompanied with lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. However, the severity of the phenotype may vary significantly. The disease occurs frequently in Roman population and molecular-genetic analysis of TMEM70 gene is sufficient for diagnostics without the need of muscle biopsy in affected children
    WorkplaceInstitute of Physiology
    ContactLucie Trajhanová, lucie.trajhanova@fgu.cas.cz, Tel.: 241 062 400
    Year of Publishing2011
Number of the records: 1  

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