| 1 | FLNC, MYFM
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| DNA sequencing errors in molecular diagnostics of filamin myopathy.
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| Odgerel Z, van der Ven PF, Fürst DO, Goldfarb LG.
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| Clin Chem Lab Med lin Chem Lab Med. 2010 Jun 27. [Epub ahead of print]PMID: 20578970 2010
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| 2 | FLNC, MYFM
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| Dominant-negative effects of a novel mutation in the filamin myopathy.
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| Kono S, Nishio T, Takahashi Y, Goto-Inoue N, Kinoshita M, Zaima N, Suzuki H, Fukutoku-Otsuji A, Setou M, Miyajima H.
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| Neurology 75(6):547-54.PMID: 20697107 2010
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| 3 | FLNC, MYFM
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| In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
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| Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, van Landeghem F, Bayarsaikhan M, Lee HS, Goudeau B, Chinnery PF, Straub V, Hilton-Jones D, Damian MS, Kaminska A, Vicart P, Bushby K, Dalakas MC, Sambuughin N, Ferrer I, Goebel HH, Goldfarb LG.
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| Eur J Hum Genet 17(5):656-63. Epub 2008 Dec 3.PMID: 19050726 2009
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| 4 | FLNC,MYFM
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| The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.
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| Lowe T, Kley RA, van der Ven PF, Himmel M, Huebner A, Vorgerd M, Furst DO.
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| Hum Mol Genet 16(11):1351-8. Epub 2007 Apr 5. 2007
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| 5 | FLNC, MYFM
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| Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
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| Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.
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| Brain 130(Pt 12):3250-64. Review.PMID: 18055494 2007
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| 6 | MYFM, FLNC
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| A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy.
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| Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A.
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| Am J Hum Genet 77(2):297-304. Epub 2005 May 31. 2005
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