Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy

OBJECTIVE: To characterize the phenotype in individuals with OPA3-related autosomal dominant optic atrophy and cataract (ADOAC) and peripheral neuropathy (PN). METHODS: Two probands with multiple affected relatives and one sporadic case were referred for evaluation of a PN. Their phenotype was deter...

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Foilsithe in:Neurol Genet
Main Authors: Horga, Alejandro, Bugiardini, Enrico, Manole, Andreea, Bremner, Fion, Jaunmuktane, Zane, Dankwa, Lois, Rebelo, Adriana P., Woodward, Catherine E., Hargreaves, Iain P., Cortese, Andrea, Pittman, Alan M., Brandner, Sebastian, Polke, James M., Pitceathly, Robert D.S., Züchner, Stephan, Hanna, Michael G., Scherer, Steven S., Houlden, Henry, Reilly, Mary M.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Wolters Kluwer 2019
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6501639/
https://ncbi.nlm.nih.gov/pubmed/31119193
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000322
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