Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency-Reference-Cited by-同舟云学术

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Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

Published:2013-08 Issue:8 Volume:1832 Page:1304-1312
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Serre Valérie,Rozanska Agata,Beinat Marine,Chretien Dominique,Boddaert Nathalie,Munnich Arnold,Rötig Agnès,Chrzanowska-Lightowlers Zofia M.

Funder

Association Française contre les Myopathies

French Agence Nationale pour la Recherche

The Wellcome Trust

BBSRC

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference62 articles.

1. Sequence and organization of the human mitochondrial genome;Anderson;Nature,1981

2. Mitochondrial disorders;Zeviani;Curr. Opin. Neurol.,2007

3. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency;Kemp;Brain,2011

4. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing;Calvo;Sci. Transl. Med.,2012

5. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy;Galmiche;Hum. Mutat.,2011

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