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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2010
Aiheet:
Original Articles
Linkit: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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