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IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder
The aetiology of dystonia disorders is complex, and next-generation sequencing has become a useful tool in elucidating the variable genetic background of these diseases. Here we report a deleterious heterozygous truncating variant in the inosine monophosphate dehydrogenase gene (IMPDH2) by whole-exo...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633184/ https://www.ncbi.nlm.nih.gov/pubmed/34305140 http://dx.doi.org/10.1038/s41431-021-00939-1 |