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Article

IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.

European journal of human genetics : EJHG - 1 Dec 2021

Kuukasjärvi Anna, Landoni Juan C, Kaukonen Jyrki, Juhakoski Mika, Auranen Mari, Torkkeli Tommi, Velagapudi Vidya, Suomalainen Anu

Abstract excerpt

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-exome sequencing, co-segregating with a dominantly inherited dystonia-tremor disease in a large Finnish family. We show...

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Identifiers

PMID: 34305140
DOI: 10.1038/s41431-021-00939-1
PMCID: PMC8633184

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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