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A new phenotype of choreic syndrome associating severe freezing of gait and chorea

The early onset of gait akinesia should not rule out the diagnosis of hereditary chorea. It would be helpful to proceed to a whole‐genome and long‐read sequencing in order to track a new pathogenic variant including noncoding repeat expansion.

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Bibliografische gegevens
Gepubliceerd in:Clin Case Rep
Hoofdauteurs: Laurens, Brice, Delleci, Claire, Goizet, Cyril, Spampinato, Umberto, Burbaud, Pierre, Guillaud, Etienne, Bestaven, Emma, Guehl, Dominique
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2020
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7495783/
https://ncbi.nlm.nih.gov/pubmed/32983500
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3008
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