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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Publicado no:Clin Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7004030/
https://ncbi.nlm.nih.gov/pubmed/31600844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13652
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