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Cannon, S.C.

Paying the price at the pump: dystonia from mutations in a Na+/K+ -ATPase.

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 alpha3 subunit (ATP1A3) as a cause of rapid-onset dystonia-parkinsonism ( RDP, DYT12).[1]

References

Paying the price at the pump: dystonia from mutations in a Na+/K+ -ATPase. Cannon, S.C. Neuron (2004) [Pubmed]

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