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Results 1 - 10 of 64 for myopathy
  1. COL6A1 gene 
    ... Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? ... JF, Lamande SR. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol. 2007 Oct;62( ...
    https://medlineplus.gov/genetics/gene/col6a1 - Genetics
  2. COL6A2 gene 
    ... Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? ... JF, Lamande SR. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol. 2007 Oct;62( ...
    https://medlineplus.gov/genetics/gene/col6a2 - Genetics
  3. COL6A3 gene 
    ... Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? ... JF, Lamande SR. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Ann Neurol. 2007 Oct;62( ...
    https://medlineplus.gov/genetics/gene/col6a3 - Genetics
  4. ACTA1 gene 
    ... have been identified in people with actin-accumulation myopathy. Most of these variants change single protein building ... that ACTA1 gene variants that cause actin-accumulation myopathy may affect the way the actin binds to ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  5. MYH7 gene 
    ... gene have been found to cause Laing distal myopathy. This condition causes progressive muscle weakness, particularly affecting ... progressive muscle weakness in people with Laing distal myopathy. More About This Health Condition At least 30 ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  6. FHL1 gene 
    ... unknown. More About This Health Condition Several other muscle disorders also result from mutations in the FHL1 gene. These include reducing body myopathy, X-linked scapuloperoneal myopathy, X-linked myopathy with ...
    https://medlineplus.gov/genetics/gene/fhl1 - Genetics
  7. SELENON gene 
    ... the SELENON gene are involved in another rare muscle disorder called desmin-related myopathy with Mallory body-like inclusions. This disorder is ... 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
  8. MT-TE gene 
    ... tones. Affected individuals may also have muscle weakness (myopathy) and problems with their eyes, heart, or kidneys. ... gene are also involved in infantile transient mitochondrial myopathy (also known as benign COX deficiency myopathy). This ...
    https://medlineplus.gov/genetics/gene/mt-te - Genetics
  9. MT-TL1 gene 
    ... is characterized by recurrent severe headaches, muscle weakness (myopathy), hearing loss, stroke-like episodes including a loss ... this syndrome include muscle twitches (myoclonus), muscle weakness (myopathy), difficulty coordinating movement (ataxia), hearing loss, seizures, and ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  10. FKBP14 gene 
    ... variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet. 2012 ...
    https://medlineplus.gov/genetics/gene/fkbp14 - Genetics
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