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...

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Hauptverfasser: S. Lühl, H. Bode, W. Schlötzer, M. Bartsakoulia, R. Horvath, A. Abicht, M. Stenzel, J. Kirschner, S. C. Grünert
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2016-10-01
Schriftenreihe:Orphanet Journal of Rare Diseases
Schlagworte:
Mitochondrial disease
RARS2
Pontocerebellar hypoplasia
OXPHOS
Mitochondrial arginyl transfer RNA synthetase
Online Zugang:http://link.springer.com/article/10.1186/s13023-016-0525-9
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