Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy
Background About 2-7% of familial cardiomyopathy cases are caused by a mutation in the gene encoding cardiac troponin 1 (TNNI3). The related clinical phenotype is usually severe with early onset. Here we report on all currently known mutations in the Dutch population and compared these with those described in literature. Methods TheTNNI3 gene was screened for mutations in all coding exons and flanking intronic sequences in a large cohort of cardiomyopathy patients. All Dutch index cases carrying a TNNI3 mutation that are described in this study underwent extensive cardiological evaluation and... Mehr ...
Verfasser: |
van den Wijngaard, A
Volders, P
Tintelen, JP
Jongbloed, JDH
Lambregtse - van den Berg, Mijke
Deprez, RHL
Mannens, MMAM
Hofmann, N
van Slegtenhorst, M
Dooijes, D
Michels, Michelle
Arens, Y
Jongbloed, R
Smeets, BJM |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2011 |
Reihe/Periodikum: |
van den Wijngaard , A , Volders , P , Tintelen , JP , Jongbloed , JDH , Lambregtse - van den Berg , M , Deprez , RHL , Mannens , MMAM , Hofmann , N , van Slegtenhorst , M , Dooijes , D , Michels , M , Arens , Y , Jongbloed , R & Smeets , BJM 2011 , ' Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy ' , Netherlands Heart Journal , vol. 19 , no. 7-8 , pp. 344-351 . https://doi.org/10.1007/s12471-011-0135-z |
Sprache: |
unknown |
Permalink: |
https://search.fid-benelux.de/Record/base-27226491 |
Datenquelle: |
BASE;
Originalkatalog |
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Link(s) :
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https://pure.eur.nl/en/publications/4f3450dd-9335-48e6-8612-3b8fef857d68 |