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Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
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SYSNO ASEP 0355558 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Mitochondrial 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 Title Archives of Disease in Childhood - ISSN 0003-9888
Roč. 95, č. 4 (2010), s. 296-301Number of pages 6 s. Language eng - English Country GB - United Kingdom Keywords TMEM70 ; ATP synthase ; mitochondrial disease Subject RIV FG - Pediatrics R&D Projects NS9759 GA MZd - Ministry of Health (MZ) 1M0520 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) CEZ AV0Z50110509 - FGU-C (2005-2011) UT WOS 000275928900013 DOI 10.1136/adc.2009.168096 Annotation 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 Workplace Institute of Physiology Contact Lucie Trajhanová, lucie.trajhanova@fgu.cas.cz, Tel.: 241 062 400 Year of Publishing 2011
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