Paying the price at the pump

Dystonia from mutations in a Na +/K+-ATPase

Stephen C. Cannon

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Dystonia is a disorder of involuntary sustained muscle contraction, which usually affects a focal region of the body but may be generalized and results in twisting contorted movements or abnormal postures. Several clinical subtypes of dystonia have been delineated and many have a strong inherited basis. In this issue of Neuron, de Carvalho Aguiar and colleagues report the identification of missense mutations in the gene for the Na+/K+-ATPase α3 subunit (ATP1A3) as a cause of rapid-onset dystonia-parkinsonism (RDP, DYT12).

Original languageEnglish (US)
Pages (from-to)153-154
Number of pages2
JournalNeuron
Volume43
Issue number2
DOIs
StatePublished - Jul 22 2004

Fingerprint

Dystonia
Body Regions
Mutation
Dyskinesias
Missense Mutation
Muscle Contraction
Posture
Smooth Muscle
Neurons
Genes
sodium-translocating ATPase
Dystonia 12

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Paying the price at the pump : Dystonia from mutations in a Na +/K+-ATPase. / Cannon, Stephen C.

In: Neuron, Vol. 43, No. 2, 22.07.2004, p. 153-154.

Research output: Contribution to journalArticle

Cannon, Stephen C. / Paying the price at the pump : Dystonia from mutations in a Na +/K+-ATPase. In: Neuron. 2004 ; Vol. 43, No. 2. pp. 153-154.
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