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Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Laing NG, et al. Among authors: sparrow jc. Hum Mutat. 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059. Hum Mutat. 2009. PMID: 19562689 Free PMC article.
Actin mutations are one cause of congenital fibre type disproportion.
Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I. Laing NG, et al. Among authors: sparrow jc. Ann Neurol. 2004 Nov;56(5):689-94. doi: 10.1002/ana.20260. Ann Neurol. 2004. PMID: 15468086
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
Jain RK, Jayawant S, Squier W, Muntoni F, Sewry CA, Manzur A, Quinlivan R, Lillis S, Jungbluth H, Sparrow JC, Ravenscroft G, Nowak KJ, Memo M, Marston SB, Laing NG. Jain RK, et al. Among authors: sparrow jc. Neurology. 2012 Apr 3;78(14):1100-3. doi: 10.1212/WNL.0b013e31824e8ebe. Epub 2012 Mar 21. Neurology. 2012. PMID: 22442437 No abstract available.
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.
Domazetovska A, Ilkovski B, Kumar V, Valova VA, Vandebrouck A, Hutchinson DO, Robinson PJ, Cooper ST, Sparrow JC, Peckham M, North KN. Domazetovska A, et al. Among authors: sparrow jc. Ann Neurol. 2007 Dec;62(6):597-608. doi: 10.1002/ana.21200. Ann Neurol. 2007. PMID: 17705262
78 results