Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Mitochondrial diseases are characterised by clinical, molecular and functional heterogeneity, reflecting their bi-genomic control. The nuclear gene GFM2 encodes mtEFG2, a protein with an essential role during the termination stage of mitochondrial translation. We present here two unrelated patients...

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Detalles Bibliográficos
Autores principales: Glasgow, Ruth I. C., Thompson, Kyle, Barbosa, Inês A., He, Langping, Alston, Charlotte L., Deshpande, Charu, Simpson, Michael A., Morris, Andrew A. M., Neu, Axel, Löbel, Ulrike, Hall, Julie, Prokisch, Holger, Haack, Tobias B., Hempel, Maja, McFarland, Robert, Taylor, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705740/
https://www.ncbi.nlm.nih.gov/pubmed/29075935
http://dx.doi.org/10.1007/s10048-017-0526-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5705740/
https://www.ncbi.nlm.nih.gov/pubmed/29075935
http://dx.doi.org/10.1007/s10048-017-0526-4

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