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Results 1 - 6 of 6 for Abnormal muscle physiology
  1. PRKAG2 gene 
    ... sensor of fuel and energy status in skeletal muscle. Physiology (Bethesda). 2006 Feb;21:48-60. doi: 10. ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  2. TTN gene 
    ... titin protein leads to dysfunction of the sarcomere. Abnormal sarcomeres prevent muscle cells from contracting and relaxing normally, resulting in ... These variants result in the production of an abnormal titin protein, ... are found in cardiac muscle. It is unclear how the altered protein causes ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  3. TSC1 gene 
    ... This destructive lung disease is caused by the abnormal overgrowth of smooth muscle-like tissue in the lungs. It occurs almost ...
    https://medlineplus.gov/genetics/gene/tsc1 - Genetics
  4. KCNQ1 gene 
    ... syndrome. In people with this condition, the cardiac muscle takes less time than usual to recharge between beats. This change increases the risk of an abnormal heart rhythm that can cause syncope or sudden ...
    https://medlineplus.gov/genetics/gene/kcnq1 - Genetics
  5. SCN5A gene 
    ... seizures, and psychotic disorders, can lead to an abnormal heart rhythm in some people. This ... channel protein, cardiac muscle alpha-subunit sodium channel, voltage gated, type V ...
    https://medlineplus.gov/genetics/gene/scn5a - Genetics
  6. FOXL2 gene 
    ... It is likely involved in the development of muscles in the eyelids. Before birth and in adulthood, ... probably impair regulation of the normal development of muscles in the eyelids, resulting in malformed eyelids that ...
    https://medlineplus.gov/genetics/gene/foxl2 - Genetics