| 1 | ACTA1, NEM3
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| Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy.
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| Friedman B, Simpson K, Tesi-Rocha C, Zhou D, Palmer CA, Suchy SF.
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| Neuromuscul Disord 24(4):331-4. doi: 10.1016/j.nmd.2013.12.006. Epub 2013 Dec 24.
2014
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| 2 | ACTA1, NEM3
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| Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.
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| Ochala J, Ravenscroft G, Laing NG, Nowak KJ.
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| PLoS One 7(9):e45923. doi: 10.1371/journal.pone.0045923. Epub 2012 Sep 20.
2012
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| 3 | ACTA1, NEM3
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| A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.
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| Ravenscroft G, Wilmshurst JM, Pillay K, Sivadorai P, Wallefeld W, Nowak KJ, Laing NG.
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| Neuromuscul Disord 21(1):31-6. Epub 2010 Sep 17.
2011
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| 4 | 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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| 5 | ACTA1, NEM3
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| Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
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| Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs AM, Dobbie JA, Appleton RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG.
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| Ann Neurol 61(2):175-84.
2007
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| 6 | ACTA1, NEM3
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| Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
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| Hutchinson DO, Charlton A, Laing NG, Ilkovski B, North KN.
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| Neuromuscul Disord 16(2):113-21. Epub 2006 Jan 19. 2006
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| 7 | ACTA1, NEM3
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| Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
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| D'Amico A, Graziano C, Pacileo G, Petrini S, Nowak KJ, Boldrini R, Jacques A, Feng JJ, Porfirio B, Sewry CA, Santorelli FM, Limongelli G, Bertini E, Laing N, Marston SB.
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| Neuromuscul Disord 16(9-10):548-52. Epub 2006 Sep 1.
2006
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| 8 | ACTA1, NEM3
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| Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
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| Wallefeld W, Krause S, Nowak KJ, Dye D, Horváth R, Molnár Z, Szabó M, Hashimoto K, Reina C, De Carlos J, Rosell J, Cabello A, Navarro C, Nishino I, Lochmüller H, Laing NG.
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| Neuromuscul Disord 16(9-10):541-7. Epub 2006 Sep 1.
2006
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| 9 | NEM1, NEM2, NEM3, NEM4, NEM5
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| Molecular classification of nemaline myopathies: nontyping specimens exhibit unique patterns of gene expression.
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| Sanoudou D, Frieden LA, Haslett JN, Kho AT, Greenberg SA, Kohane IS, Kunkel LM, Beggs AH.
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| Neurobiol Dis 15(3):590-600. 2004
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| 10 | NEM3, ACTA1
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| Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
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| Ilkovski B, Nowak KJ, Domazetovska A, Maxwell AL, Clement S, Davies KE, Laing NG, North KN, Cooper ST.
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| Hum Mol Genet 13(16):1727-43. Epub 2004 Jun 15. 2004
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| 11 | 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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| 12 | ACTA1, NEM3
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| Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
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| Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F.
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| Neuromuscul Disord 11(1):35-40. 2001
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| 13 | ACTA1, NEM3
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| Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.
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| Buxmann H, Schlosser R, Schlote W, Sewell A, Nowak KJ, Laing NG, Loewenich V.
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| Neuropediatrics 32(5):267-70. 2001
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| 14 | 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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