PMC Links for OMIM (Select 102565) - PMC

Select item 93154481.

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes

Daniele Velardo, Maria Grazia D'Angelo, Andrea Citterio, Elena Panzeri, Laura Napoli, Claudia Cinnante, Maurizio Moggio, Giacomo Pietro Comi, Dario Ronchi, Maria Teresa Bassi

Front Neurol. 2022; 13: 930039. Published online 2022 Jul 12. doi: 10.3389/fneur.2022.930039

PMCID:: PMC9315448

Abstract Article PDF–2.6M

Select item 75392912.

FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy

Francesca Brun, Marta Gigli, Sharon L Graw, Daniel P Judge, Marco Merlo, Brittney Murray, Hugh Calkins, Gianfranco Sinagra, Matthew RG Taylor, Luisa Mestroni, Cynthia A James

J Med Genet. Author manuscript; available in PMC 2020 Oct 7.

Published in final edited form as: J Med Genet. 2020 Apr; 57(4): 254–257. Published online 2020 Jan 10. doi: 10.1136/jmedgenet-2019-106394

PMCID:: PMC7539291

Abstract Article PDF–360K

Select item 51667083.

FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy

Rene L. Begay, Charles A. Tharp, August Martin, Sharon L. Graw, Gianfranco Sinagra, Daniela Miani, Mary E. Sweet, Dobromir B. Slavov, Neil Stafford, Molly J. Zeller, Rasha Alnefaie, Teisha J. Rowland, Francesca Brun, Kenneth L. Jones, Katherine Gowan, Luisa Mestroni, Deborah M. Garrity, Matthew R.G. Taylor

JACC Basic Transl Sci. 2016 Aug; 1(5): 344–359. Published online 2016 Jul 27. doi: 10.1016/j.jacbts.2016.05.004

PMCID:: PMC5166708

Abstract Article PDF–3.1M

Select item 32071424.

Filamin 2 (Fln2): A Muscle-Specific Sarcoglycan Interacting Protein

Terri G. Thompson, Yiu-Mo Chan, Andrew A. Hack, Melissa Brosius, Michael Rajala, Hart G.W. Lidov, Elizabeth M. McNally, Simon Watkins, Louis M. Kunkel

J Cell Biol. 2000 Jan 10; 148(1): 115–126. doi: 10.1083/jcb.148.1.115

PMCID:: PMC3207142

Abstract Article PDF–558K

Select item 31133465.

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael M. Duff, Valerie Tay, Peter Hackman, Gianina Ravenscroft, Catriona McLean, Paul Kennedy, Alina Steinbach, Wiebke Schöffler, Peter F.M. van der Ven, Dieter O. Fürst, Jaeguen Song, Kristina Djinović-Carugo, Sini Penttilä, Olayinka Raheem, Katrina Reardon, Alessandro Malandrini, Simona Gambelli, Marcello Villanova, Kristen J. Nowak, David R. Williams, John E. Landers, Robert H. Brown, Jr., Bjarne Udd, Nigel G. Laing

Am J Hum Genet. 2011 Jun 10; 88(6): 729–740. doi: 10.1016/j.ajhg.2011.04.021

PMCID:: PMC3113346

Abstract Article PDF–1.1M

Select item 26729616.

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

Abstract Article PDF–464K

Select item 12245317.

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

PMCID:: PMC1224531

Abstract Article PDF–1.8M

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