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

Result code in 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>

Alternative codes found

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

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

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

Original language 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 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.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

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

Publication year

2010

Confidentiality

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

Name of the periodical

Archives of disease in childhood

ISSN

0003-9888

e-ISSN

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Volume of the periodical

95

Issue of the periodical within the volume

4

Country of publishing house

GB - UNITED KINGDOM

Number of pages

6

Pages from-to

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UT code for WoS article

000275928900013

EID of the result in the Scopus database

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