Mitochondrial A3243G mutation results in corneal endothelial polymegathism

PURPOSE: The mitochondrial DNA point mutation A3243G leads to a spectrum of syndromes ranging from MIDD to MELAS. Ocular manifestations include pattern macular dystrophy and concentric perifoveal atrophy. Given the high metabolic demand of corneal endothelial cells, we performed specular biomicrosco...

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Bibliografski detalji
Izdano u:Graefes Arch Clin Exp Ophthalmol
Glavni autori: Bakhoum, Mathieu F., Wu, Wei-Pu, White, Eugenia C., Sengillo, Jesse D., Sanfilippo, Christian, Morcos, Marcelle M., Freund, K. Bailey, Perry, Henry D., Sarraf, David, Tsang, Stephen H.
Format: Artigo
Jezik:Inglês
Izdano: 2018
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777962/
https://ncbi.nlm.nih.gov/pubmed/29376197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00417-018-3914-z
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