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Dystonic tremor and blepharospasm in a patient with deletion of 18q.
Tereshko, Yan; Belgrado, Enrico; Lettieri, Christian; Passon, Nadia; Damante, Giuseppe; Gigli, Gian Luigi; Valente, Mariarosaria.
  • Tereshko Y; Clinical Neurology Unit, Udine University Hospital, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy. Electronic address: tereshko.yan@spes.uniud.it.
  • Belgrado E; Neurology Unit, Udine University Hospital, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.
  • Lettieri C; Neurology Unit, Udine University Hospital, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.
  • Passon N; Institut of Medical Genetics, Udine University Hospital, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.
  • Damante G; Institut of Medical Genetics, Udine University Hospital, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.
  • Gigli GL; Clinical Neurology Unit, Udine University Hospital, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.
  • Valente M; Clinical Neurology Unit, Udine University Hospital, Piazzale Santa Maria della Misericordia 15, 33100 Udine, Italy.
Clin Neurol Neurosurg ; 224: 107549, 2023 01.
Article en En | MEDLINE | ID: mdl-36502650
18q- Syndrome is a rare chromosomic syndrome where neurological involvement is scarcely described. Movement disorders are rare and only one case with dystonia was described. In our paper, we describe the second report of a patient with 18q- Syndrome, blepharospasm, and dystonic tremor of his right hand and hyperthyroidism instead of hypothyroidism.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Blefaroespasmo / Trastornos Distónicos / Trastornos de los Cromosomas / Distonía Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Blefaroespasmo / Trastornos Distónicos / Trastornos de los Cromosomas / Distonía Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article