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

Multiple respiratory chain deficiencies represent a common cause of mitochondrial diseases and are associated with a wide range of clinical symptoms. We report a subject, born to consanguineous parents, with growth retardation and neurological deterioration. Multiple respiratory chain deficiency was...

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Detalhes bibliográficos
Principais autores: Serre, Valérie, Rozanska, Agata, Beinat, Marine, Chretien, Dominique, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Chrzanowska-Lightowlers, Zofia M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier Pub. Co 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3787750/
https://ncbi.nlm.nih.gov/pubmed/23603806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2013.04.014
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