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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Détails bibliographiques
Publié dans:Graefes Arch Clin Exp Ophthalmol
Auteurs principaux: 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
Langue:Inglês
Publié: 2018
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Article
Accès en ligne: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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