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

Abstract Background Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2 encodes mitochondrial arginyl transfer RNA synthetase, an enzyme involved in mitochondrial protein translation. A total of 27 patients from 14 families have been repor...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: S. Lühl, H. Bode, W. Schlötzer, M. Bartsakoulia, R. Horvath, A. Abicht, M. Stenzel, J. Kirschner, S. C. Grünert
Formato: Artigo
Lenguaje:Inglês
Publicado: BMC 2016-10-01
Colección:Orphanet Journal of Rare Diseases
Materias:
Mitochondrial disease
RARS2
Pontocerebellar hypoplasia
OXPHOS
Mitochondrial arginyl transfer RNA synthetase
Acceso en línea:http://link.springer.com/article/10.1186/s13023-016-0525-9
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares