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Jervell-Lange Nielsen Syndrome  

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Tipo

  • mesh:Descriptor

Definición

  • A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).

Concepto genérico

Etiquetas alternativas

  • Cardioauditory Syndrome of Jervell and Lange-Nielsen
  • Cardio-Auditory-Syncope Syndrome
  • Deafness, Congenital, and Functional Heart Disease
  • Jervell and Lange-Nielsen Syndrome
  • Prolonged QT Interval in EKG and Sudden Death
  • Surdo-Cardiac Syndrome

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-FVS3FH9L-1

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RDF/XML TURTLE JSON-LD Creado 25/7/01, última modificación 5/7/19