Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

OBJECTIVE: To determine the molecular basis of a severe neurologic disorder in a large consanguineous family with complete agenesis of the corpus callosum (ACC), pontocerebellar hypoplasia (PCH), and peripheral axonal neuropathy. METHODS: Assessment included clinical evaluation, neuroimaging, and ne...

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Detalles Bibliográficos
Autores principales: Marsh, Ashley P.L., Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M., Yiu, Eppie M., Sim, Joe C.H., Delatycki, Martin B., Amor, David J., McGillivray, George, Sherr, Elliott H., Bahlo, Melanie, Leventer, Richard J., Lockhart, Paul J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807911/
https://www.ncbi.nlm.nih.gov/pubmed/27066553
http://dx.doi.org/10.1212/NXG.0000000000000014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807911/
https://www.ncbi.nlm.nih.gov/pubmed/27066553
http://dx.doi.org/10.1212/NXG.0000000000000014

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