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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F09%3A4072%21RIV10-MSM-11110___
rdf:type
n14:Vysledek skos:Concept
dcterms:description
SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a rare progressive neurodegenerative disorder of infancy, characterized by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia, leading to death before the age of 4 years. Most of the reported mutations create premature termination codons, whereas missense mutations are rare. The aim of the study was to characterize the natural history of LS patients carrying at least one missense mutation in the SURF1 gene. Nineteen such patients were compared with a reference group of 20 own c.845_846delCT homozygous patients, and with other LS(SURF-). The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients, normal MRI findings, normal blood lactate value, and only mild decrease of cytochrome c oxidase activity are not sufficient reasons to forego SURF1 mutation analysis in differential diagnosis SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a rare progressive neurodegenerative disorder of infancy, characterized by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia, leading to death before the age of 4 years. Most of the reported mutations create premature termination codons, whereas missense mutations are rare. The aim of the study was to characterize the natural history of LS patients carrying at least one missense mutation in the SURF1 gene. Nineteen such patients were compared with a reference group of 20 own c.845_846delCT homozygous patients, and with other LS(SURF-). The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients, normal MRI findings, normal blood lactate value, and only mild decrease of cytochrome c oxidase activity are not sufficient reasons to forego SURF1 mutation analysis in differential diagnosis
dcterms:title
SURF1 missense mutations promote a mild Leigh phenotype SURF1 missense mutations promote a mild Leigh phenotype
skos:prefLabel
SURF1 missense mutations promote a mild Leigh phenotype SURF1 missense mutations promote a mild Leigh phenotype
skos:notation
RIV/00216208:11110/09:4072!RIV10-MSM-11110___
n3:aktivita
n17:Z
n3:aktivity
Z(MSM0021620806)
n3:cisloPeriodika
2
n3:dodaniDat
n7:2010
n3:domaciTvurceVysledku
n4:7786301 n4:6270875 n4:9177981
n3:druhVysledku
n8:J
n3:duvernostUdaju
n16:S
n3:entitaPredkladatele
n9:predkladatel
n3:idSjednocenehoVysledku
344807
n3:idVysledku
RIV/00216208:11110/09:4072
n3:jazykVysledku
n13:eng
n3:klicovaSlova
Leigh syndrome; mild; phenotype; missinse mutations; natural history; SURF1 gene
n3:klicoveSlovo
n5:natural%20history n5:Leigh%20syndrome n5:SURF1%20gene n5:mild n5:phenotype n5:missinse%20mutations
n3:kodStatuVydavatele
DK - Dánské království
n3:kontrolniKodProRIV
[C8551DF34A01]
n3:nazevZdroje
Clinical Genetics
n3:obor
n12:EB
n3:pocetDomacichTvurcuVysledku
3
n3:pocetTvurcuVysledku
14
n3:rokUplatneniVysledku
n7:2009
n3:svazekPeriodika
76
n3:tvurceVysledku
Magner, Martin Bielecka, L. Piekutowska-Abramczuk, D. Krajewska-Walasek, M. Kmiec, T. Sykut-Cegielska, J. Szymanska-Debinska, T. Karcmarewicz, E. Jurkiewicz, E. Pronicki, M. Pronicka, E. Zeman, Jiří Popowska, E. Veselá, Kateřina
n3:wos
000270125700012
n3:zamer
n18:MSM0021620806
s:issn
0009-9163
s:numberOfPages
10
n10:organizacniJednotka
11110