PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

BACKGROUND: PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia–parkinsonism. METHODS: A consanguineous inde...

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Detalles Bibliográficos
Autores principales: Giri, Anamika, Guven, Gamze, Hanagasi, Hasmet, Hauser, Ann-Kathrin, Erginul-Unaltuna, Nihan, Bilgic, Basar, Gurvit, Hakan, Heutink, Peter, Gasser, Thomas, Lohmann, Ebba, Simón-Sánchez, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2016
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811020/
https://www.ncbi.nlm.nih.gov/pubmed/27127721
http://dx.doi.org/10.7916/D81G0M12

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811020/
https://www.ncbi.nlm.nih.gov/pubmed/27127721
http://dx.doi.org/10.7916/D81G0M12

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