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Results 1 - 7 of 7 for Nemaline myopathy 7
  1. Nemaline myopathy 
    ... Testing Registry: Nemaline myopathy 6 Genetic Testing Registry: Nemaline myopathy 7 Genetic Testing Registry: Nemaline myopathy 8 Genetic Testing ... NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE; NEM5A NEMALINE MYOPATHY 7; NEM7 NEMALINE MYOPATHY 6; NEM6 CONGENITAL MYOPATHY 4B, ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  2. 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.2006.07.018. ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  3. Intranuclear rod myopathy 
    ... actin gene (ACTA1). Neuromuscul Disord. 2003 Sep;13(7-8):519-31. 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
  4. Actin-accumulation myopathy 
    ... myopathy Congenital myopathy with excess of thin filaments Nemaline myopathy 3 Genetic Testing Registry: Actin accumulation myopathy National ... actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999 Oct;23(2):208-12. ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  5. Cap myopathy 
    ... molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. Biochem J. 2012 Feb 15;442(1):231- ... for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010. ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics
  6. TPM3 gene 
    ... gene are also associated with a condition called nemaline myopathy. People with nemaline myopathy typically have muscle weakness throughout their body, including ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  7. TPM2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Nemaline myopathy More About This Health Condition At least six ... beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Neuromuscul Disord. 2002 Feb;12(2):151-8. ...
    https://medlineplus.gov/genetics/gene/tpm2 - Genetics