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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Main Authors: Fuhrmann, Nico, Schimpf, Simone, Kamenisch, York, Leo-Kottler, Beate, Alexander, Christiane, Auburger, Georg, Zrenner, Eberhart, Wissinger, Bernd, Alavi, Marcel V
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2010
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2893178/
https://ncbi.nlm.nih.gov/pubmed/20546606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1326-5-25
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