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Mitochondrial 12S ribosomal RNA A1555G mutation associated with cardiomyopathy and hearing loss following high-dose chemotherapy and repeated aminoglycoside exposure.
Skou, Anne-Sofie; Tranebjærg, Lisbeth; Jensen, Tim; Hasle, Henrik.
Afiliación
  • Skou AS; Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark.
  • Tranebjærg L; Department of Audiology, HS Bispebjerg Hospital, Copenhagen, Denmark; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen, Denmark.
  • Jensen T; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen, Denmark.
  • Hasle H; Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark. Electronic address: hasle@dadlnet.dk.
J Pediatr ; 164(2): 413-5, 2014 Feb.
Article en En | MEDLINE | ID: mdl-24252789
ABSTRACT
A 19-month-old girl with the A1555G mitochondrial mutation in the 12S ribosomal RNA gene and acute myelogenous leukemia developed dilated cardiomyopathy and bilateral sensorineural hearing loss before undergoing allogeneic stem cell transplantation. She had received gentamicin during episodes of febrile neutropenia. Testing for the A1555G mutation is recommended in patients frequently treated with aminoglycosides.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ARN Ribosómico / Aminoglicósidos / Pérdida Auditiva Sensorineural / Mutación / Cardiomiopatías Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Infant Idioma: En Revista: J Pediatr Año: 2014 Tipo del documento: Article País de afiliación: Dinamarca
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: ARN Ribosómico / Aminoglicósidos / Pérdida Auditiva Sensorineural / Mutación / Cardiomiopatías Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Infant Idioma: En Revista: J Pediatr Año: 2014 Tipo del documento: Article País de afiliación: Dinamarca