Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

BACKGROUND: Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON) or represent different disease entities. In 1954 W. Jaeger publi...

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Detalles Bibliográficos
Autores principales: Fuhrmann, Nico, Schimpf, Simone, Kamenisch, York, Leo-Kottler, Beate, Alexander, Christiane, Auburger, Georg, Zrenner, Eberhart, Wissinger, Bernd, Alavi, Marcel V
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893178/
https://www.ncbi.nlm.nih.gov/pubmed/20546606
http://dx.doi.org/10.1186/1750-1326-5-25

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2893178/
https://www.ncbi.nlm.nih.gov/pubmed/20546606
http://dx.doi.org/10.1186/1750-1326-5-25

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