TMEM70 deficiency: long-term outcome of 48 patients

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/15:10295133

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

TMEM70 deficiency: long-term outcome of 48 patients

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

TMEM70 deficiency: long-term outcome of 48 patients

Popis výsledku anglicky

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.

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

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

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

Název periodika

Journal of Inherited Metabolic Disease

ISSN

0141-8955

e-ISSN

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Svazek periodika

38

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

10

Strana od-do

417-426

Kód UT WoS článku

000354500000005

EID výsledku v databázi Scopus

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