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PubMed (cited) for id: 609524

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Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
Lee HH, Wong S, Sheng B, Pan NK, Leung YF, Lau KD, Cheng YS, Ho LC, Li R, Lee CN, Tsoi TH, Cheung YN, Fu YM, Kan NA, Chu YP, Au WL, Yeung HJ, Li SH, Cheung CM, Tong HF, Hung LE, Chan TY, Li CT, Tong TT, Tong TC, Leung HC, Lee KH, Yeung SS, Lee SB, Lau TG, Lam CW, Mak CM, Chan AY. Lee HH, et al. Clin Genet. 2020 May;97(5):747-757. doi: 10.1111/cge.13715. Epub 2020 Feb 23. Clin Genet. 2020. PMID: 32022900
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
Chevessier F, Schuld J, Orfanos Z, Plank AC, Wolf L, Maerkens A, Unger A, Schlötzer-Schrehardt U, Kley RA, Von Hörsten S, Marcus K, Linke WA, Vorgerd M, van der Ven PF, Fürst DO, Schröder R. Chevessier F, et al. Hum Mol Genet. 2015 Dec 20;24(25):7207-20. doi: 10.1093/hmg/ddv421. Epub 2015 Oct 15. Hum Mol Genet. 2015. PMID: 26472074
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
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. Shatunov A, et al. Eur J Hum Genet. 2009 May;17(5):656-63. doi: 10.1038/ejhg.2008.226. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050726 Free PMC article.