DOI: 10.1086/431959. A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

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

10.1086/431959

Crossref journal-article

Elsevier BV

The American Journal of Human Genetics (78)

Bibliography

Vorgerd, M., van der Ven, P. F. M., Bruchertseifer, V., LÃ¶we, T., Kley, R. A., SchrÃ¶der, R., LochmÃ¼ller, H., Himmel, M., Koehler, K., FÃ¼rst, D. O., & Huebner, A. (2005). A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy. The American Journal of Human Genetics, 77(2), 297â304.

Authors 11

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

References 24 Referenced 263

10.1093/hmg/ddi136 / Hum Mol Genet / Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro by Bär (2005)
10.1038/ncb1104-1034 / Nat Cell Biol / The many faces of filamin: a versatile molecular scaffold for cell motility and signalling by Feng (2004)
10.1016/S0896-6273(00)80651-0 / Neuron / Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia by Fox (1998)
10.1212/WNL.56.4.450 / Neurology / Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation by Gamez (2001)
10.1038/1300 / Nat Genet / Missense mutations in desmin associated with familial cardiac and skeletal myopathy by Goldfarb (1998)
10.1093/brain/awh033 / Brain / Desmin myopathy by Goldfarb (2004)
10.1093/hmg/9.14.2141 / Hum Mol Genet / Myotilin is mutated in limb girdle muscular dystrophy 1A by Hauser (2000)
10.1021/bi026501+ / Biochemistry / The limits of promiscuity: isoform-specific dimerization of filamins by Himmel (2003)
10.1038/ng1319 / Nat Genet / Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis by Krakow (2004)
10.1091/mbc.9.4.829 / Mol Biol Cell / Mapping of a myosin-binding domain and a regulatory phosphorylation site in M-protein, a structural protein of the sarcomeric M band by Obermann (1998)
10.1212/01.WNL.0000073984.46546.4F / Neurology / A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2 by Palenzuela (2003)
10.1016/j.str.2004.10.014 / Structure / Structural basis for vertebrate filamin dimerization by Pudas (2005)
10.1038/ng1119 / Nat Genet / Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans by Robertson (2003)
10.1093/hmg/ddg060 / Hum Mol Genet / On noxious desmin: functional effects of a novel desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria by Schröder (2003)
10.1002/ana.10767 / Ann Neurol / Myofibrillar myopathy caused by novel dominant negative α-B-crystallin mutations by Selcen (2003)
10.1212/01.WNL.0000123576.74801.75 / Neurology / Mutations in myotilin cause myofibrillar myopathy by Selcen (2004)
{'key': '10.1086/431959_bib22', 'series-title': 'Myology', 'first-page': '1187', 'article-title': 'Myofibrillar myopathy', 'author': 'Selcen', 'year': '2004'} / Myology / Myofibrillar myopathy by Selcen (2004)
10.1002/ana.20376 / Ann Neurol / Mutations in ZASP define a novel form of muscular dystrophy in humans by Selcen (2005)
10.1038/35052082 / Nat Rev Mol Cell Biol / Filamins as integrators of cell mechanics and signalling by Stossel (2001)
10.1083/jcb.148.1.115 / J Cell Biol / Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein by Thompson (2000)
10.1016/S0167-4889(01)00072-6 / Biochim Biophys Acta / Structural and functional aspects of filamins by van der Flier (2001)
10.1002/(SICI)1097-0169(200002)45:2<149::AID-CM6>3.0.CO;2-G / Cell Motil Cytoskeleton / Characterization of muscle filamin isoforms suggests a possible role of γ-filamin/ABP-L in sarcomeric Z-disc formation by van der Ven (2000)
10.1083/jcb.151.2.235 / J Cell Biol / Indications for a novel muscular dystrophy pathway: γ-filamin, the muscle-specific filamin isoform, interacts with myotilin by van der Ven (2000)
10.1038/1765 / Nat Genet / A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy by Vicart (1998)

Dates

Type	When
Created	20 years, 1 month ago (July 8, 2005, 6:49 p.m.)
Deposited	6 years, 7 months ago (Jan. 24, 2019, 11:56 a.m.)
Indexed	3 weeks, 3 days ago (Aug. 6, 2025, 9:11 a.m.)
Issued	20 years ago (Aug. 1, 2005)
Published	20 years ago (Aug. 1, 2005)
Published Print	20 years ago (Aug. 1, 2005)

Funders 0

None

BibTeX

@article{Vorgerd_2005, title={A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy}, volume={77}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/431959}, DOI={10.1086/431959}, number={2}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Vorgerd, Matthias and van der Ven, Peter F.M. and Bruchertseifer, Vera and Löwe, Thomas and Kley, Rudolf A. and Schröder, Rolf and Lochmüller, Hanns and Himmel, Mirko and Koehler, Katrin and Fürst, Dieter O. and Huebner, Angela}, year={2005}, month=aug, pages={297–304} }

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