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Results 1 - 4 of 4 for Nemaline myopathy 6
  1. Nemaline myopathy 
    ... Testing Registry: Nemaline myopathy 5 Genetic Testing Registry: Nemaline myopathy 6 Genetic Testing Registry: Nemaline myopathy 7 Genetic Testing ... RECESSIVE, SEVERE INFANTILE; NEM5A NEMALINE MYOPATHY 7; NEM7 NEMALINE MYOPATHY 6; NEM6 CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYP4B CONGENITAL ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  2. Intranuclear rod myopathy 
    ... J, Neuen-Jacob E, Mayatepek E, Voit T. Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). Neuropediatrics. 2007 Dec;38(6):282-6. doi: 10.1055/s-2008-1065356. ...
    https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy - Genetics
  3. Actin-accumulation myopathy 
    ... PubMed Schroder JM, Durling H, Laing N. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). Acta Neuropathol. 2004 Sep;108(3):250-6. doi: 10.1007/s00401-004-0888-1. Epub ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  4. Cap myopathy 
    ... tropomyosin gene TPM2. Neuromuscul Disord. 2007 Jun;17(6):433-42. doi: ... in TPM2-related nemaline and cap myopathy. Biochem J. 2012 Feb 15;442(1):231- ...
    https://medlineplus.gov/genetics/condition/cap-myopathy - Genetics