MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

Mitochondrial disorders are clinically and genetically heterogeneous and are associated with a variety of disease mechanisms. Defects of mitochondrial protein synthesis account for the largest subgroup of disorders manifesting with impaired respiratory chain capacity; yet, only a few have been linke...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Bugiardini, Enrico, Mitchell, Alice L, Rosa, Ilaria Dalla, Horning-Do, Hue-Tran, Pitmann, Alan M, Poole, Olivia V, Holton, Janice L, Shah, Sachit, Woodward, Cathy, Hargreaves, Iain, Quinlivan, Rosaline, Amunts, Alexey, Wiesner, Rudolf J, Houlden, Henry, Holt, Ian J, Hanna, Michael G, Pitceathly, Robert D S, Spinazzola, Antonella
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687946/
https://ncbi.nlm.nih.gov/pubmed/31039582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz093
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