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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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
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2010
Teme:
Original Articles
Online dostop: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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