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

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About: Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1136/adc.2009.168096
Description	The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency and mutation in the TMEM70 gene. Retrospective clinical data and metabolic profiles were collected and evaluated in 25 patients (14 boys, 11 girls) from seven European countries with a c.317-2A->G mutation in the TMEM70 gene. Conclusions ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of critically ill neonates with early neonatal onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-methylglutaconic aciduria. However, phenotype severity may vary significantly. The disease occurs frequently in the Roma population and molecular-genetic analysis of the TMEM70 gene is sufficient for diagnosis without need of muscle biopsy in affected children. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency and mutation in the TMEM70 gene. Retrospective clinical data and metabolic profiles were collected and evaluated in 25 patients (14 boys, 11 girls) from seven European countries with a c.317-2A->G mutation in the TMEM70 gene. Conclusions ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of critically ill neonates with early neonatal onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-methylglutaconic aciduria. However, phenotype severity may vary significantly. The disease occurs frequently in the Roma population and molecular-genetic analysis of the TMEM70 gene is sufficient for diagnosis without need of muscle biopsy in affected children. (en)
Title	Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation (en)
skos:prefLabel	Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation (en)
skos:notation	RIV/00216208:11110/10:7007!RIV12-MZ0-11110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(1M0520), P(NS9759), Z(AV0Z50110509), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Brantová, Olga Zeman, Jiří Ješina, Pavel Honzík, Tomáš Tesařová, Markéta Kmoch, Stanislav Magner, Martin Hansíková, Hana
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	271604
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/10:7007
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	ATP synthase; neonatal oneset; 3-methylglutaconic aciduria; hyperammonemia hypospadias (en)
http://linked.open.../riv/klicoveSlovo	ATP synthase hyperammonemia hypospadias neonatal oneset 3-methylglutaconic aciduria
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[F42BC038019A]
http://linked.open...i/riv/nazevZdroje	Archives of Disease in Childhood
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	8 (xsd:int)
http://linked.open...cetTvurcuVysledku	16 (xsd:int)
http://linked.open...vavai/riv/projekt	Center for Applied Genomics Genetic causes of mitochondrial diseases due to deficiency of ATP synthase
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	95
http://linked.open...iv/tvurceVysledku	Houštěk, Josef Honzík, Tomáš Ješina, Pavel Magner, Martin Tesařová, Markéta Zeman, Jiří Kmoch, Stanislav Hansíková, Hana Koch, J. Sperl, W. Kostková, Olga Bodamer, O. Freissinger, P. Huemer, Martina Mayr, Johannes A van Coster, R.
http://linked.open...ain/vavai/riv/wos	000275928900013
http://linked.open...n/vavai/riv/zamer	Výzkum molekulárních a buněčných základů fyziologických a patofyziologických procesů s cílem objasnit mechanismy vzniku závažných onemocnění člověka Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	0003-9888
number of pages	6 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

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