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Article

Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

Journal of neurology - 1 Jan 2015

Wilcox Robert, Brænne Ingrid, Brüggemann Norbert, Winkler Susen, Wiegers Karin, Bertram Lars, Anderson Tim, Lohmann Katja

Abstract excerpt

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or postures. Several genetic causes of dystonia have been elucidated but genetic causes of dystonia specifically affecting females have not yet been described. In the present study, we investigated a large dystonia family from New Zealand in which only females were affected. They presented...

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Dystonic Disorders
Exome
Mutation
New Zealand

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Analysis, DNA

Sodium-Potassium-Exchanging ATPase

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PMID: 25359261
DOI: 10.1007/s00415-014-7547-9

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