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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F10%3A7007" target="_blank" >RIV/00064165:_____/10:7007 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/67985823:_____/10:00355558 RIV/00216208:11110/10:7007

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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 25patients (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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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 25patients (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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FG - Pediatrie

OECD FORD obor

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Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2010

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Archives of disease in childhood

ISSN

0003-9888

e-ISSN

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Svazek periodika

95

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

6

Strana od-do

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Kód UT WoS článku

000275928900013

EID výsledku v databázi Scopus

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