Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar at...

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Detalles Bibliográficos
Autores principales: Sancho, Paula, Andrés-Bordería, Amparo, Gorría-Redondo, Nerea, Llano, Katia, Martínez-Rubio, Dolores, Yoldi-Petri, María Eugenia, Blumkin, Luba, Rodríguez de la Fuente, Pablo, Gil-Ortiz, Fernando, Fernández-Murga, Leonor, Sánchez-Monteagudo, Ana, Lupo, Vincenzo, Pérez-Dueñas, Belén, Espinós, Carmen, Aguilera-Albesa, Sergio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7958857/
https://www.ncbi.nlm.nih.gov/pubmed/33801522
http://dx.doi.org/10.3390/ijms22052505

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7958857/
https://www.ncbi.nlm.nih.gov/pubmed/33801522
http://dx.doi.org/10.3390/ijms22052505

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