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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Bibliografske podrobnosti
izdano v: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
Jezik:Inglês
Izdano: Wolters Kluwer 2019
Teme:
Article
Online dostop: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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