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Nemaline myopathy 9
- ... alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 1995 Jan;9(1):75-9. doi: 10.1038/ng0195-75. ...
- ... in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat. 2006 Sep;27(9):946-56. doi: 10.1002/humu.20370. Citation on PubMed Ottenheijm CA, Hooijman P, DeChene ET, Stienen GJ, Beggs ... with nebulin-based nemaline myopathy (NEM2). J Struct Biol. 2010 May;170(2): ...
- ... molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. Biochem J. 2012 Feb 15;442(1):231-9. doi: 10.1042/BJ20111030. Citation on PubMed Monnier ...
- ... C, Nishino I, Lochmuller H, Laing NG. Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). Neuromuscul Disord. 2006 Oct;16(9-10):541-7. doi: 10.1016/j.nmd. ...