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

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. A consanguineous index case from Turkey wa...

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Bibliographic Details

Published in:	Tremor and other hyperkinetic movements (New York, N.Y.) Vol. 6; p. 363
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	United States Columbia University Libraries/Information Services 16.03.2016 Ubiquity Press
Subjects:	Brief Reports DCNT1 parkinsonism PLA2G6 LRRK2
ISSN:	2160-8288, 2160-8288
Online Access:	Get full text
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