MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy-Reference-Cited by-同舟云学术

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

Published:2015-03-24 Issue:4 Volume:16 Page:319-323
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Distelmaier Felix,Haack Tobias B.,Catarino Claudia B.,Gallenmüller Constanze,Rodenburg Richard J.,Strom Tim M.,Baertling Fabian,Meitinger Thomas,Mayatepek Ertan,Prokisch Holger,Klopstock Thomas

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-015-0444-2.pdf

Reference8 articles.

1. Saada A, Shaag A, Arnon S et al (2007) Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. J Med Genet 44:784–6

2. Smits P, Saada A, Wortmann SB et al (2011) Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. Eur J Hum Genet 19:394–99

3. Galmiche L, Serre V, Beinat M et al (2011) Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Hum Mutat 32:1225–31

4. Serre V, Rozanska A, Beinat M et al (2013) Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency. Biochim Biophys Acta 1832:1304–12

5. Carroll CJ, Isohanni P, Pöyhönen R et al (2013) Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. J Med Genet 50:151–9

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