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Results 21 - 30 of 35 for Skeletal myopathy
  1. ACAD9 gene 
    ... energy die off, particularly cells in the brain, skeletal muscle, and other tissues and organs that require a lot of energy. The loss of cells in these tissues is thought to lead to myopathy and other features of ACAD9 deficiency. More About ...
    https://medlineplus.gov/genetics/gene/acad9 - Genetics
  2. NEB gene 
    ... muscles, which are muscles used for movement. Within skeletal muscle cells, nebulin is ... found to cause nemaline myopathy. Some of these mutations change single protein building ...
    https://medlineplus.gov/genetics/gene/neb - Genetics
  3. ANO5 gene 
    ... leads to fragile bones, jaw problems, and other skeletal abnormalities. The ... muscle disorders. Researchers suggest that the mutations may affect the ...
    https://medlineplus.gov/genetics/gene/ano5 - Genetics
  4. ISCU gene 
    ... sulfur cluster assembly enzyme is particularly damaging to skeletal muscle ... of myopathy with deficiency of iron-sulfur cluster assembly enzyme. ...
    https://medlineplus.gov/genetics/gene/iscu - Genetics
  5. MYOT gene 
    The MYOT gene provides instructions for making a protein called myotilin. Myotilin is found in heart (cardiac) muscle and muscles used for movement (skeletal ...
    https://medlineplus.gov/genetics/gene/myot - Genetics
  6. GNE gene 
    ... to progressive muscle weakness in people with GNE myopathy. Sialic acid is important for the normal function of many different cells and tissues, so it is unclear why the signs and symptoms of this disorder appear to be limited to skeletal muscles. More About This Health Condition Several variants ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  7. MYH3 gene 
    ... Freeman-Sheldon syndrome. This disorder affects muscle and skeletal development before birth and is characterized by abnormalities ... can cause Sheldon-Hall syndrome, a muscle and skeletal disorder that impairs joint movement in the hands ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  8. COL6A1 gene 
    ... that make up the muscles used for movement (skeletal muscle cells) and cells that make up connective ... Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? ...
    https://medlineplus.gov/genetics/gene/col6a1 - Genetics
  9. COL6A2 gene 
    ... that make up the muscles used for movement (skeletal muscle cells) and cells that make up connective ... Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? ...
    https://medlineplus.gov/genetics/gene/col6a2 - Genetics
  10. COL6A3 gene 
    ... that make up the muscles used for movement (skeletal muscle cells) and cells that make up connective ... Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? ...
    https://medlineplus.gov/genetics/gene/col6a3 - Genetics
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