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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Bibliografiske detaljer
Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: Wolters Kluwer 2019
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Article
Online adgang: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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