POLR3A variants with striatal involvement and extrapyramidal movement disorder

Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in combination with cerebellar and pyramidal signs and variable non-neurological manifestations. Basal ganglia are spared in 4H leukodystrophy, and dystonia is not prominent. Three patients with variants in POLR3A...

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Detalles Bibliográficos
Autores principales: Harting, Inga, Al-Saady, Murtadha, Krägeloh-Mann, Ingeborg, Bley, Annette, Hempel, Maja, Bierhals, Tatjana, Karch, Stephanie, Moog, Ute, Bernard, Geneviève, Huntsman, Richard, van Spaendonk, Rosalina M. L., Vreeburg, Maaike, Rodríguez-Palmero, Agustí, Pujol, Aurora, van der Knaap, Marjo S., Pouwels, Petra J. W., Wolf, Nicole I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064625/
https://www.ncbi.nlm.nih.gov/pubmed/31940116
http://dx.doi.org/10.1007/s10048-019-00602-4

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