Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

Distal myopathies are a heterogeneous group of disorders characterized by progressive weakness and muscular atrophy, beginning in distal limb muscles and affecting proximal limb muscles at a later stage. We studied a large German kindred with 10 affected members. Weakness and atrophy of the anterior...

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Detalhes bibliográficos
Main Authors: Cirak, Sebahattin, von Deimling, Florian, Sachdev, Shrikesh, Errington, Wesley J., Herrmann, Ralf, Bönnemann, Carsten, Brockmann, Knut, Hinderlich, Stephan, Lindner, Tom H., Steinbrecher, Alice, Hoffmann, Katrin, Privé, Gilbert G., Hannink, Mark, Nürnberg, Peter, Voit, Thomas
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2892937/
https://ncbi.nlm.nih.gov/pubmed/20554658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awq108
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