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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Neurol Genet
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Wolters Kluwer 2019
Θέματα:
Article
Διαθέσιμο Online: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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