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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Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892937/
https://www.ncbi.nlm.nih.gov/pubmed/20554658
http://dx.doi.org/10.1093/brain/awq108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892937/
https://www.ncbi.nlm.nih.gov/pubmed/20554658
http://dx.doi.org/10.1093/brain/awq108

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