Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency

Mitochondrial complex I deficiency is associated with a diverse range of clinical phenotypes and can arise due to either mitochondrial DNA (mtDNA) or nuclear gene defects. We investigated two adult patients who exhibited non-syndromic neurological features and evidence of isolated mitochondrial comp...

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Detaylı Bibliyografya
Yayımlandı:Front Genet
Asıl Yazarlar: Ng, Yi Shiau, Thompson, Kyle, Loher, Daniela, Hopton, Sila, Falkous, Gavin, Hardy, Steven A., Schaefer, Andrew M., Shaunak, Sandip, Roberts, Mark E., Lilleker, James B., Taylor, Robert W.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2020
Konular:
Genetics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7052259/
https://ncbi.nlm.nih.gov/pubmed/32158465
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00024
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