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Results 1 - 7 of 7 for Nemaline myopathy 2
  1. ... Testing Registry: Nemaline myopathy 10 Genetic Testing Registry: Nemaline myopathy 2 Genetic Testing Registry: Nemaline myopathy 4 Genetic Testing ... gov CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYP2A NEMALINE MYOPATHY 2; NEM2 NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE; ...
  2. ... beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Neuromuscul Disord. 2002 Feb;12(2):151-8. doi: 10.1016/s0960-8966(01) ... a new cause of Escobar syndrome associated with nemaline myopathy. Neuromuscul Disord. 2009 Feb;19(2):118-23. doi: 10.1016/j.nmd.2008. ...
  3. ... actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Citation on PubMed Ochala J. Thin filament proteins mutations associated with ... myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ...
  4. ... depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol. 2010 May;170(2):334-43. doi: 10.1016/j.jsb.2009.11.013. Epub 2009 Nov 26. Citation on PubMed or Free article on PubMed Central ... AH, North KN. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol. ...
  5. ... Barois A, Muntoni F, Romero NB, Laing NG. Nemaline myopathy caused by absence of alpha-skeletal muscle actin. Ann Neurol. 2007 Feb;61(2):175-84. doi: 10.1002/ana.21035. Citation ...
  6. ... alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 1995 Jan;9(1):75-9. doi: 10.1038/ng0195-75. Erratum In: Nat Genet. 1995 Jun;10(2):249. Citation on PubMed Lawlor MW, Dechene ET, ...
  7. ... molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. Biochem J. 2012 Feb 15;442(1):231- ... with beta-tropomyosin (TPM2) mutations. Neurology. 2008 Dec 2;71(23):1896-901. ... disease mechanism in cap myopathy due to TPM3. Neuromuscul Disord. 2010 Jul;20( ...