[fr] Il s'agit d'un case report d'un patient de 42 ans présentant une dystonie négative du voile du palais, prouvée électromyographiquement, chez qui a été mise en évidence une mutation du gène THAP1 (DYT6)
Disciplines :
Otolaryngology
Author, co-author :
GRIMALDI, STEPHAN; SERVICE DE NEUROLOGIE ASSISTANCE PUBLIQUE HOPITAUX DE MARSEILLE
Lagier, Aude ; Centre Hospitalier Universitaire de Liège - CHU > Autres Services Médicaux > Service d'ORL, d'audiophonologie et de chir. cervico-faciale
ROBERT, DANIELE; SERVICE ORL AP-HM
KORCHIA, DANIEL; SERVICE ORL AP-HM
SOULAYROL, SOPHIE; SERVICE DE NEUROLOGIE AP-HM
AZULAY, JEAN-PHILIPPE; SERVICE DE NEUROLOGIE AP-HM
Language :
English
Title :
Dystonia of the soft palate: Mutation of the THAP1 (DYT6) gene in a 42- year-old patient
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Sinclair, C.F., Simonyan, K., Brin, M.F., Blitzer, A., Negative dystonia of the palate: a novel entity and diagnostic consideration in hypernasal speech. Laryngoscope 125:6 (2015), 1426–1432.
de Gusmão, C.M., Fuchs, T., Moses, A., Multhaupt-Buell, T., Song, P.C., Ozelius, L.J., et al. Dystonia-causing mutations as a contribution to the etiology of spasmodic dysphonia. Otolaryngol Head Neck Surg 155:4 (2016), 624–628.
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