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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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Sonraí Bibleagrafaíochta
Foilsithe in:Clin Case Rep
Main Authors: Laurens, Brice, Delleci, Claire, Goizet, Cyril, Spampinato, Umberto, Burbaud, Pierre, Guillaud, Etienne, Bestaven, Emma, Guehl, Dominique
Formáid: Artigo
Teanga:Inglês
Foilsithe: John Wiley and Sons Inc. 2020
Ábhair:
Rochtain Ar Líne: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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