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Homozygous mutation in KVLQT1 which causes Jervell and Lange Nielsen syndrome
Homozygous mutation in KVLQT1 which causes Jervell and Lange Nielsen syndrome
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机译：KVLQT1的纯合突变导致Jervell和Lange Nielsen综合征
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摘要
Jervell and Lange-Nielsen syndrome (JLN) is an autosomal recessive form of long QT syndrome. In addition to QT interval prolongation, this disorder is associated with congenital deafness. JLN is rare, but affected individuals are susceptible to cardiac arrhythmias with a high incidence of sudden death and short life expectancy. A homozygous mutation in KVLQT1, the potassium channel gene responsible for chromosome 11-linked long QT syndrome, is shown to be a cause of JLN.
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