id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_i2bu4nncsnbhxev6ytlqipt2uy	Q. Chen	Homozygous Deletion in KVLQT1 Associated With Jervell and Lange-Nielsen Syndrome	1999.0	4	.pdf	application/pdf	3639	327	64	Homozygous Deletion in KVLQT1 Associated With Jervell and Lange-Nielsen Syndrome autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported. homozygous mutations in KVLQT1 and KCNE1 in JLNS families in which QTc prolongation was inherited as a Methods and Results—An Amish family with clinical evidence of JLNS was analyzed for mutations by use of single-strand conformation polymorphism and DNA sequencing analyses for mutations in all known LQT genes. novel homozygous 2-bp deletion in the S2 transmembrane segment of KVLQT1 was identified in affected members of this Amish family in which both QTc prolongation and deafness were inherited as recessive traits. inherited as a clear dominant trait, 2 parents in the JLNS family described here have normal QTc intervals (0.43 and Conclusions—A novel homozygous KVLQT1 mutation causes JLNS in an Amish family with deafness that is inherited as Neyroud et al18 and Splawski et al19 reported the identification of homozygous mutations of KVLQT1 in JLNS.	./cache/work_i2bu4nncsnbhxev6ytlqipt2uy.pdf	./txt/work_i2bu4nncsnbhxev6ytlqipt2uy.txt