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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| 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 |