SÍNDROME DE SENGERS: COMUNICACIÓN DE DOS CASOS EN CHILE

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SÍNDROME DE SENGERS: COMUNICACIÓN DE DOS CASOS EN CHILE

El Síndrome de Sengers es una enfermedad mitocondrial autosómica recesiva, producida por mutación del gen de la Acil-Glicerol Kinasa (AGK), recientemente descubierto. Se caracteriza por cataratas congénitas bilaterales, miocardiopatía hipertrófica y acidosis láctica. Puede tener miopatía esquelética...

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Detalles Bibliográficos
Autores principales:	Pulido,Nathan, Rivera,Julio, Arriaza,Marta, Saavedra,Miguel, Ríos,Gustavo
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Chilena de Cardiología y Cirugía Cardiovascular 2013
Materias:	Sengers Syndrome Hypertrophic Cardiomyopathy Acyl-Glycerol-Kinase Mitochondrial Disease Congenital Cataract Lactic Acidosis
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0718-85602013000300009
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

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