| 1 | ACTA1, ACTM
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| Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.
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| Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, Mitsuhashi S, Tominaga K, Hayashi YK, Nowak KJ, Laing NG, Nonaka I, Nishino I.
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| Neuromuscul Disord 21(7):489-93. Epub 2011 Apr 21.
2011
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| 2 | ACTA1, ACTM, CFTD1, NEM3
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| Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
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| 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.
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| Hum Mutat 30(9):1267-77.PMID: 19562689 2009
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| 3 | ACTA1, ACTM
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| Functional effects of nemaline myopathy mutations on human skeletal alpha-actin.
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| Miller BM, Trybus KM.
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| J Biol Chem 283(28):19379-88. Epub 2008 May 12. 2008
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| 4 | ACTM, ACTA1
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| Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
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| Kaindl AM, Ruschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Muller-Hocker J, Nurnberg P, Stoltenburg-Didinger G, Lochmuller H, Huebner A.
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| J Med Genet 41(11):842-8. No abstract available. 2004
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| 5 | ACTA1, ACTM, NEM3
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| Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
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| Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN.
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| Am J Hum Genet 68(6):1333-43. 2001
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| 6 | ACTA1, ACTM, NEM3
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| Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
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| Nowak KJ, et al.
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| Nat Genet 23(2):208-12 1999
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| 7 | ACTM, ACTA1
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| Congenital myopathy with excess of thin myofilaments.
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| Goebel HH, et al.
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| Neuromuscul Disord 7(3):160-8 1997
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