| 1 | 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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| 2 | ACTA1, CFTD1
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| The pathogenesis of ACTA1-related congenital fiber type disproportion.
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| Clarke NF, Ilkovski B, Cooper S, Valova VA, Robinson PJ, Nonaka I, Feng JJ, Marston S, North K.
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| Ann Neurol 61(6):552-61.
2007
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| 3 | ACTA1, CFTD1
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| Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.
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| Sobrido MJ, Fernandez JM, Fontoira E, Perez-Sousa C, Cabello A, Castro M, Teijeira S, Alvarez S, Mederer S, Rivas E, Seijo-Martinez M, Navarro C.
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| Brain 128(Pt 7):1716-27. Epub 2005 Apr 27. 2005
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| 4 | ACTA1, CFTD1
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| Actin mutations are one cause of congenital fibre type disproportion.
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| 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.
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| Ann Neurol 56(5):689-94. 2004
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