Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.

Lühl, S; Bode, H; Schlötzer, W; Bartsakoulia, M; Horvath, R; Abicht, A; Stenzel, M; Kirschner, J; Grünert, S C

Lühl, S; Bode, H; Schlötzer, W; Bartsakoulia, M; Horvath, R; Abicht, A; Stenzel, M; Kirschner, J; Grünert, S C.

Afiliación

Lühl S; Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm, Germany.
Bode H; Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm, Germany.
Schlötzer W; Department of Diagnostic and Interventional Radiology, Section Neuroradiology, University Medical Center, Ulm, Germany.
Bartsakoulia M; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Horvath R; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Abicht A; Medical Genetics Centre, Munich, Germany.
Stenzel M; Department of Pediatric Radiology, Kliniken der Stadt Köln, Köln, Germany.
Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany. sarah.gruenert@uniklinik-freiburg.de.

Orphanet J Rare Dis ; 11(1): 140, 2016 10 21.

Article en En | MEDLINE | ID: mdl-27769281

Asunto(s)

Arginino-ARNt Ligasa/genética; Enfermedades Mitocondriales/genética; Mutación/genética; Atrofias Olivopontocerebelosas/genética; Hermanos; Preescolar; Femenino; Humanos; Lactante; Recién Nacido; Imagen por Resonancia Magnética; Masculino; Enfermedades Mitocondriales/patología; Atrofias Olivopontocerebelosas/patología

Palabras clave

Mitochondrial arginyl transfer RNA synthetase; Mitochondrial disease; OXPHOS; Pontocerebellar hypoplasia; RARS2

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Arginino-ARNt Ligasa / Atrofias Olivopontocerebelosas / Enfermedades Mitocondriales / Hermanos / Mutación Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido

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