Počet záznamů: 1

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

  1. 1.
    0355558 - FGU-C 2011 RIV GB eng J - Článek v odborném periodiku
    Honzík, T. - Tesařová, M. - Mayr, J. A. - Hansíková, H. - Ješina, P. - Bodamer, O. - Koch, J. - Magner, M. - Freisinger, P. - Huemer, M. - Kostková, O. - Van Coster, R. - Kmoch, S. - Houštěk, Josef - Sperl, W. - Zeman, J.
    Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
    Archives of Disease in Childhood. Roč. 95, č. 4 (2010), s. 296-301 ISSN 0003-9888
    Grant CEP: GA MZd(CZ) NS9759; GA MŠk(CZ) 1M0520
    Výzkumný záměr: CEZ:AV0Z50110509
    Klíčová slova: TMEM70 * ATP synthase * mitochondrial disease
    Kód oboru RIV: FG - Pediatrie
    Impakt faktor: 2.616, rok: 2010

    Multi-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
    Trvalý link: http://hdl.handle.net/11104/0194302