Isolated generalized dystonia in biallelic missense mutations of the ATM gene

Mov Disord. 2013 Nov;28(13):1897-9. doi: 10.1002/mds.25487. Epub 2013 May 2.

Authors

Wassilios G Meissner¹, Marie Fernet, Jérôme Couturier, Janet Hall, Anthony Laugé, Patrick Henry, Dominique Stoppa-Lyonnet, François Tison

Affiliation

¹ Service de Neurologie, Centre Expert Parkinson et Centre Maladie Rare Atrophie Multisystématisée, Centre Hospitalier Universitaire de Bordeaux, Pessac, France; Institut des Maladies Neurodégénératives, Unité Mixte de Recherche (UMR) 5293, University de Bordeaux, Bordeaux, France; Le Centre National de la Recherche Scientifique, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France.

PMID: 23640770
DOI: 10.1002/mds.25487

No abstract available

Publication types

Letter
Video-Audio Media

MeSH terms

Ataxia Telangiectasia Mutated Proteins / genetics*
Dystonia / genetics*
Family Health
Female
Humans
Male
Mutation, Missense / genetics*

Substances

Ataxia Telangiectasia Mutated Proteins