Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

In the present study, we describe two novel cases of SCA5 with early onset. The first one, carrying a novel heterozygous de novo missense mutation in SPTBN2 gene, showed a striking very severe cerebellar atrophy and reduction of volume of the pons at a very young age (16 months). The latter, carryin...

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Detalles Bibliográficos
Autores principales: Romaniello, Romina, Citterio, Andrea, Panzeri, Elena, Arrigoni, Filippo, De Rinaldis, Marta, Trabacca, Antonio, Bassi, Maria Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045899/
https://www.ncbi.nlm.nih.gov/pubmed/33756041
http://dx.doi.org/10.1002/acn3.51345

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045899/
https://www.ncbi.nlm.nih.gov/pubmed/33756041
http://dx.doi.org/10.1002/acn3.51345

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