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The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder

Mutations in the PARK2 gene have been implicated in the pathogenesis of early-onset Parkinson's disease. We present a case of movement disorder in a 4-year-old child from consanguineous parents and with a family history of Dopamine responsive dystonia, who was diagnosed with early-onset Parkins...

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Detalles Bibliográficos
Autores principales: Benger, Matthew, Mankad, Kshitij, Proukakis, Christos, Mazarakis, Nicholas D., Kinali, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549119/
https://www.ncbi.nlm.nih.gov/pubmed/31191442
http://dx.doi.org/10.3389/fneur.2019.00555