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Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
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. Wallefeld W, et al. Among authors: nowak kj. Neuromuscul Disord. 2006 Oct;16(9-10):541-7. doi: 10.1016/j.nmd.2006.07.018. Epub 2006 Sep 1. Neuromuscul Disord. 2006. PMID: 16945536
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG; ENMC International Consortium On Nemaline Myopathy. Wallgren-Pettersson C, et al. Among authors: nowak kj. Neuromuscul Disord. 2004 Sep;14(8-9):461-70. doi: 10.1016/j.nmd.2004.03.006. Neuromuscul Disord. 2004. PMID: 15336686
Nemaline myopathy caused by absence of alpha-skeletal muscle actin.
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. Nowak KJ, et al. Ann Neurol. 2007 Feb;61(2):175-84. doi: 10.1002/ana.21035. Ann Neurol. 2007. PMID: 17187373
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: nowak kj. Hum Mutat. 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059. Hum Mutat. 2009. PMID: 19562689 Free PMC article.
101 results