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Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance

Autosomal dominant progressive external ophthalmoplegia (adPEO) is a late‐onset, Mendelian mitochondrial disorder characterised by paresis of the extraocular muscles, ptosis, and skeletal‐muscle restricted multiple mitochondrial DNA (mtDNA) deletions. Although dominantly inherited, pathogenic varian...

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Detalles Bibliográficos
Autores principales:	Sommerville, Ewen W., Dalla Rosa, Ilaria, Rosenberg, Masha M., Bruni, Francesco, Thompson, Kyle, Rocha, Mariana, Blakely, Emma L., He, Langping, Falkous, Gavin, Schaefer, Andrew M., Yu‐Wai‐Man, Patrick, Chinnery, Patrick F., Hedstrom, Lizbeth, Spinazzola, Antonella, Taylor, Robert W., Gorman, Gráinne S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004030/ https://www.ncbi.nlm.nih.gov/pubmed/31600844 http://dx.doi.org/10.1111/cge.13652

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