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Results 1 - 10 of 38 for body myopathy
  1. FHL1 gene 
    ... mutations in the FHL1 gene. These include reducing body myopathy, X-linked scapuloperoneal myopathy, X-linked myopathy with ... bodies have been found in people with reducing body myopathy, X-linked scapuloperoneal myopathy, and rigid spine syndrome, ...
    https://medlineplus.gov/genetics/gene/fhl1 - Genetics
  2. VCP gene 
    ... have been identified in people who have inclusion body myopathy with early-onset Paget disease and frontotemporal dementia ( ... the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. Acta Neuropathol. 2007 Jul;114(1):55-61. ...
    https://medlineplus.gov/genetics/gene/vcp - Genetics
  3. GNE gene 
    ... I, Soffer D, Mitrani-Rosenbaum S. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology. 2003 May ... kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7. ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  4. SELENON gene 
    ... The inclusions resemble an abnormality known as Mallory bodies. As in other SELENON-related muscle disorders (described above), desmin-related myopathy with Mallory body- ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  5. ACTA1 gene 
    ... PubMed Schroder JM, Durling H, Laing N. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 ( ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  6. TPM3 gene 
    ... nemaline myopathy typically have muscle weakness throughout their body, including the muscles of the face, neck, and limbs. When nemaline myopathy is caused by mutations in the TPM3 gene, ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  7. PNPLA2 gene 
    ... fats in muscle and other tissues throughout the body, resulting in the signs and symptoms of neutral lipid storage disease with myopathy. More About This Health Condition adipose triglyceride lipase ...
    https://medlineplus.gov/genetics/gene/pnpla2 - Genetics
  8. SLCO1B1 gene 
    ... into the liver, they build up in the body, and can cause a condition known as statin-induced myopathy. This condition causes fatigue, pain, tenderness, weakness, and ...
    https://medlineplus.gov/genetics/gene/slco1b1 - Genetics
  9. MT-ND5 gene 
    ... episodes (MELAS). This condition affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The MT-ND5 gene variants that cause MELAS ...
    https://medlineplus.gov/genetics/gene/mt-nd5 - Genetics
  10. ANO5 gene 
    ... that are away from the center of the body (distal muscles), particularly those in the legs. The ANO5 gene mutations identified in people with Miyoshi myopathy change single amino acids in the anoctamin-5 ...
    https://medlineplus.gov/genetics/gene/ano5 - Genetics
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