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Results 1 - 10 of 100 for body myopathy
  1. Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 
    Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, ... altered gene from one affected parent. IBMPFD Inclusion body myopathy with early-onset Paget disease of bone and/ ...
    https://medlineplus.gov/...paget-disease-and-frontotemporal-dementia - Genetics
  2. GNE myopathy 
    ... called it rimmed vacuole myopathy or hereditary inclusion body myopathy (HIBM). It has since become clear that these ... vacuoles Distal myopathy, Nonaka type DMRV Hereditary inclusion body myopathy type 2 HIBM2 IBM2 Inclusion body myopathy type ...
    https://medlineplus.gov/genetics/condition/gne-myopathy - Genetics
  3. Myosin storage myopathy 
    ... sufficient to cause the disorder. Autosomal dominant hyaline body myopathy Genetic Testing Registry: Myosin storage myopathy Hyaline body myopathy National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/genetics/condition/myosin-storage-myopathy - Genetics
  4. Nemaline myopathy 
    ... rod disease Rod body disease Rod myopathy Rod-body myopathy Genetic Testing Registry: Actin accumulation myopathy Genetic Testing ...
    https://medlineplus.gov/genetics/condition/nemaline-myopathy - Genetics
  5. Hereditary myopathy with early respiratory failure 
    ... Noguchi S, Nonaka I, Nishino I. Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry. ...
    https://medlineplus.gov/...y-myopathy-with-early-respiratory-failure - Genetics
  6. 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
  7. 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
  8. 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
  9. 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
  10. Idiopathic inflammatory myopathy 
    ... Testing Registry: Myositis disease Genetic Testing Registry: Inclusion body myositis Idiopathic inflammatory myopathy National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/.../idiopathic-inflammatory-myopathy - Genetics
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