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Results 1 - 9 of 9 for Nemaline myopathy 9
  1. Nemaline myopathy 
    ... Testing Registry: Nemaline myopathy 8 Genetic Testing Registry: Nemaline myopathy 9 Nemaline myopathy National Organization for Rare Disorders (NORD) ... CONGENITAL MYOPATHY 23; CMYP23 NEMALINE MYOPATHY 8; NEM8 NEMALINE MYOPATHY 9; NEM9 NEMALINE MYOPATHY 10; NEM10 PubMed Lehtokari VL, ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  2. TPM3 gene 
    ... alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 1995 Jan;9(1):75-9. doi: 10.1038/ng0195-75. ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  3. NEB gene 
    ... 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): ...
    https://medlineplus.gov/genetics/gene/neb - Genetics
  4. TPM2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics
  5. Cap myopathy 
    ... 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 Ochala ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  6. ACTA1 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  7. Actin-accumulation myopathy 
    ... 1197-204. doi: 10.1007/s00109-008-0380-9. Epub 2008 Jun 24. Citation on PubMed Schroder JM, Durling H, Laing N. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  8. Intranuclear rod myopathy 
    ... 31. doi: 10.1016/s0960-8966(03)00101-9. Citation on PubMed Weeks DA, Nixon RR, Kaimaktchiev V, Mierau GW. Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy. Ultrastruct Pathol. 2003 May-Jun;27( ...
    https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy - Genetics
  9. Patient support and advocacy groups 
    ... National Urea Cycle Disorders Foundation NBIA Disorders Association Nemaline Myopathy Support Group Nerve Tumors UK Neurofibromatosis Midwest NF ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -