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Fig. 2 | BMC Medical Genetics

Fig. 2

From: A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

Fig. 2

Pedigree of the family. The proband is indicated by a black filled circle and an arrowhead. Squares denote males, and circles denote females. Hatched squares or circles denote significant QTc prolongation. QTc intervals are provided for each individual. *, QTc was measured under beta-blocker treatment (metoprolol). **, QTc was measured under treatment with beta-blockers (atenolol and bisoprolol) and other medication (mexiletine). E39X and P448R, nonsense variant (NM_000218.2:c.115G > T) or common variant (NM_000218.2:c.1343C > G) in the KCNQ1 gene. mo., months old; yo., years old; hetero, heterozygous; homo, homozygous; ms, millisecond; N.D., not determined

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BMC Medical Genetics

ISSN: 1471-2350

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