First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation

PURPOSE: To describe the genotype–phenotype correlation in four Greek pedigrees with autosomal dominant optic atrophy (ADOA) and OPA1 mutations. METHODS: Seven patients from four unrelated families (F1, F2, F3, F4) were clinically assessed for visual acuity, color vision, ptosis, afferent pupillary...

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Detalles Bibliográficos
Autores principales: Kamakari, Smaragda, Koutsodontis, George, Tsilimbaris, Miltiadis, Fitsios, Athanasios, Chrousos, Georgia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4037535/
https://www.ncbi.nlm.nih.gov/pubmed/24883014

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