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COUMEL , Philippe

Last name: COUMEL

First name: Philippe

February 1997 (v1)

Journal article

Metadata-only

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

Neyroud, Nathalie Tesson, Frédérique Denjoy, Isabelle

The Jervell and Lange-Nielsen (JLN) syndrome (MIM 220400) is an inherited autosomal recessive disease characterized by a congenital bilateral deafness associated with a QT prolongation on the electrocardiogram, syncopal attacks due to ventricular arrhythmias and a high risk of sudden death. JLN syndrome is a rare disease, which seems to affect...

Uploaded on: December 4, 2022