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...

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Detalles Bibliográficos
Autores principales: Kuukasjärvi, Anna, Landoni, Juan C., Kaukonen, Jyrki, Juhakoski, Mika, Auranen, Mari, Torkkeli, Tommi, Velagapudi, Vidya, Suomalainen, Anu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Brief Communication
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

Internet

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

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