| 释义 |
Jervell-Lange-Nielsen syndrome Jervell-Lange-Nielsen syndrome A rare (1:200,000) autosomal-recessive form of profound congenital deafness, associated with syncope and sudden cardiac death, caused by prolonged QT interval due to mutations in KCNQ1 or KCNE1, which encode proteins that co-assemble, thus forming a potassium channel. |