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Results 1 - 3 of 3 for Nemaline myopathy 2
  1. Nemaline myopathy 
    ... Testing Registry: Nemaline myopathy 10 Genetic Testing Registry: Nemaline myopathy 2 Genetic Testing Registry: Nemaline myopathy 5 Genetic Testing ... gov CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYP2A NEMALINE MYOPATHY 2; NEM2 NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE; ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  2. Actin-accumulation myopathy 
    ... 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 ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  3. Cap myopathy 
    ... 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( ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics