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Cosegregation of the Marfan syndrome and the long QT syndrome in the same family leads to a severe cardiac phenotype

✍ Scribed by Vincent Probst; Marie Allouis; Florence Kyndt; Gilles Lande; Jean-N.oël Trochu; Jean-Jacques Schott; Hervé Le Marec


Book ID
113976402
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
79 KB
Volume
91
Category
Article
ISSN
0002-9149

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At least three different gene loci were recently shown to account for the long QT syndrome (LQTS), a monogenic disorder with altered myocardial repolarization and occurrence of life-threatening cardiac arrhythmias. We screened 44 unrelated probands for mutations of the gene encoding the cardiac pota