Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review

BACKGROUND: Biallelic variants in HPCA were linked to isolated dystonia (formerly DYT2) in 2015. Since then, the clinical spectrum of HPCA‐related disorder has expanded up to including a complex syndrome encompassing neurodevelopmental delay, generalized dystonia with bulbar involvement, and infanti...

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Detalles Bibliográficos
Autores principales: Magrinelli, Francesca, Bhatia, Kailash P., Beiraghi Toosi, Mehran, Arab, Fatemeh, Karimiani, Ehsan Ghayoor, Sedighzadeh, Sahar, Ansari, Behnaz, Neshatdoust, Maedeh, Rocca, Clarissa, Houlden, Henry, Maroofian, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Series with Literature Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9847280/
https://www.ncbi.nlm.nih.gov/pubmed/36698997
http://dx.doi.org/10.1002/mdc3.13529

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9847280/
https://www.ncbi.nlm.nih.gov/pubmed/36698997
http://dx.doi.org/10.1002/mdc3.13529

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