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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687946/
https://www.ncbi.nlm.nih.gov/pubmed/31039582
http://dx.doi.org/10.1093/hmg/ddz093

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