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

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 reported so f...

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Detalles Bibliográficos
Autores principales: Lühl, S., Bode, H., Schlötzer, W., Bartsakoulia, M., Horvath, R., Abicht, A., Stenzel, M., Kirschner, J., Grünert, S. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073905/
https://www.ncbi.nlm.nih.gov/pubmed/27769281
http://dx.doi.org/10.1186/s13023-016-0525-9

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