Adult-onset KMT2B-related dystonia

KMT2B-related dystonia (DYT-KMT2B, also known as DYT28) is an autosomal dominant neurological disorder characterized by varying combinations of generalized dystonia, psychomotor developmental delay, mild-to-moderate intellectual disability and short stature. Disease onset occurs typically before 10...

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Detalles Bibliográficos
Autores principales: Monfrini, Edoardo, Ciolfi, Andrea, Cavallieri, Francesco, Ferilli, Marco, Soliveri, Paola, Pedace, Lucia, Erro, Roberto, Del Sorbo, Francesca, Valzania, Franco, Fioravanti, Valentina, Cossu, Giovanni, Pellegrini, Maria, Salviati, Leonardo, Invernizzi, Federica, Oppo, Valentina, Murgia, Daniela, Giometto, Bruno, Picillo, Marina, Garavaglia, Barbara, Morgante, Francesca, Tartaglia, Marco, Carecchio, Miryam, Di Fonzo, Alessio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9724767/
https://www.ncbi.nlm.nih.gov/pubmed/36483457
http://dx.doi.org/10.1093/braincomms/fcac276

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