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Items: 2

Select item 26729611.

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

Alexey Shatunov, Montse Olivé, Zagaa Odgerel, Christine Stadelmann-Nessler, Kerstin Irlbacher, Frank van Landeghem, Munkhuu Bayarsaikhan, Hee-Suk Lee, Bertrand Goudeau, Patrick F Chinnery, Volker Straub, David Hilton-Jones, Maxwell S Damian, Anna Kaminska, Patrick Vicart, Kate Bushby, Marinos C Dalakas, Nyamkhishig Sambuughin, Isidro Ferrer, Hans H Goebel, Lev G Goldfarb

Eur J Hum Genet. 2009 May; 17(5): 656–663. Published online 2008 Dec 3. doi: 10.1038/ejhg.2008.226

PMCID:: PMC2672961

Article PDF–464K

Select item 12245312.

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

Matthias Vorgerd, Peter F. M. van der Ven, Vera Bruchertseifer, Thomas Löwe, Rudolf A. Kley, Rolf Schröder, Hanns Lochmüller, Mirko Himmel, Katrin Koehler, Dieter O. Fürst, Angela Huebner

Am J Hum Genet. 2005 Aug; 77(2): 297–304. Published online 2005 May 31. doi: 10.1086/431959