TMEM70 deficiency: long-term outcome of 48 patients

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10295133" target="_blank" >RIV/00216208:11110/15:10295133 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/15:10295133
Result on the web
<a href="http://dx.doi.org/10.1007/s10545-014-9774-8" target="_blank" >http://dx.doi.org/10.1007/s10545-014-9774-8</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s10545-014-9774-8" target="_blank" >10.1007/s10545-014-9774-8</a>

Result language
angličtina
Original language name
TMEM70 deficiency: long-term outcome of 48 patients
Original language description
Objectives TMEM70 deficiency is the most common nuclear-encoded defect affecting the ATP synthase. In this multicentre retrospective study we characterise the natural history of the disease, treatment and outcome in 48 patients with mutations in TMEM70.Eleven centers from eight European countries, Turkey and Israel participated. Results All 27 Roma and eight non-Roma patients were homozygous for the common mutation c.317-2A > G. Five patients were compound heterozygotes for the common mutation and mutations c.470 T > A, c.628A > C, c.118_119insGT or c.251delC. Six Arab Muslims and two Turkish patients were homozygous for mutations c.238C > T, c.316 + 1G > T, c.336 T > A, c.578_579delCA, c.535C > T, c.359delC. Age of onset was neonatal in 41 patients,infantile in six cases and two years in one child. The most frequent symptoms at onset were poor feeding, hypotonia, lethargy, respiratory and heart failure, accompanied by lactic acidosis, 3-methylglutaconic aciduria and hyperammonaemia.
Czech name
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Czech description
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Type
J<sub>x</sub> - 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
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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