A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

The American Journal of Human Genetics - Tập 77 - Trang 297-304 - 2005
Matthias Vorgerd1, Peter F.M. van der Ven2,3, Vera Bruchertseifer4, Thomas Löwe2, Rudolf A. Kley1, Rolf Schröder5,6, Hanns Lochmüller7, Mirko Himmel2, Katrin Koehler4, Dieter O. Fürst2,3, Angela Huebner4
1Department of Neurology, Neuromuscular Center Ruhrgebiet, Ruhr-University Bochum, Bochum, Germany
2Department of Cell Biology, University of Potsdam, Potsdam, Germany
3Department of Molecular Cell Biology, University of Bonn, Bonn
4Children’s Hospital, Technical University Dresden, Dresden
5Department of Neurology, University of Bonn, Bonn
6Center for Biochemistry, University of Cologne, Cologne, Germany
7Department of Neurology, Friedrich-Baur-Institute, Munich

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The American Journal of Human Genetics

Tập 77

297-304

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