Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy by Sebahattin Cirak, Florian von Deimling, Shrikesh.

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

by Sebahattin Cirak, Florian von Deimling, Shrikesh Sachdev, Wesley J. Errington, Ralf Herrmann, Carsten Bönnemann, Knut Brockmann, Stephan Hinderlich, Tom H. Lindner, Alice Steinbrecher, Katrin Hoffmann, Gilbert G. Privé, Mark Hannink, Peter

Nürnberg, and Thomas Voit

BrainVolume 133(7):2123-2135

June 28, 2010

© The Author(s) 2010. Published by Oxford University Press on behalf of Brain.

Pedigree.

Sebahattin Cirak et al. Brain 2010;133:2123-2135

© The Author(s) 2010. Published by Oxford University Press on behalf of Brain.

Clinical information from index Patient 950307.

Sebahattin Cirak et al. Brain 2010;133:2123-2135

© The Author(s) 2010. Published by Oxford University Press on behalf of Brain.

Whole genome scan and haplotypes of the disease locus at chromosome 9p21.2-p23.3.

Sebahattin Cirak et al. Brain 2010;133:2123-2135

© The Author(s) 2010. Published by Oxford University Press on behalf of Brain.

Structural model of the KLHL9–Cul3 complex and alignment of Kelch proteins.

Sebahattin Cirak et al. Brain 2010;133:2123-2135

© The Author(s) 2010. Published by Oxford University Press on behalf of Brain.

Functional studies and expression.

Sebahattin Cirak et al. Brain 2010;133:2123-2135

© The Author(s) 2010. Published by Oxford University Press on behalf of Brain.