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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Clin Genet
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Blackwell Publishing Ltd 2019
विषय:
Original Articles
ऑनलाइन पहुंच: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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