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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...
Autores principales: | Benger, Matthew, Mankad, Kshitij, Proukakis, Christos, Mazarakis, Nicholas D., Kinali, Maria |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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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 |
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