AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

OBJECTIVE: To describe the clinico-radiological phenotype of 3 patients harboring a homozygous novel AP4M1 pathogenic mutation. METHODS: The 3 patients from an inbred family who exhibited early-onset developmental delay, tetraparesis, juvenile motor function deterioration, and intellectual deficienc...

Descripción completa

Detalles Bibliográficos
Autores principales: Roubertie, Agathe, Hieu, Nelson, Roux, Charles-Joris, Leboucq, Nicolas, Manes, Gael, Charif, Majida, Echenne, Bernard, Goizet, Cyril, Guissart, Claire, Meyer, Pierre, Marelli, Cecilia, Rivier, François, Burglen, Lydie, Horvath, Rita, Hamel, Christian P., Lenaers, Guy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820597/
https://www.ncbi.nlm.nih.gov/pubmed/29473051
http://dx.doi.org/10.1212/NXG.0000000000000217

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820597/
https://www.ncbi.nlm.nih.gov/pubmed/29473051
http://dx.doi.org/10.1212/NXG.0000000000000217

Ejemplares similares