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Results 1 - 10 of 10 for Genetic neuromuscular disease
  1. TTN gene 
    The TTN gene provides instructions for making a very large protein called titin. This protein plays an important role in skeletal muscles, which the body ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  2. PABPN1 gene 
    The PABPN1 gene provides instructions for making a protein that is found throughout the body. The PABPN1 protein plays an important role in processing molecules ...
    https://medlineplus.gov/genetics/gene/pabpn1 - Genetics
  3. TPM3 gene 
    The TPM3 gene provides instructions for making a protein called slow muscle alpha (α)-tropomyosin, which is part of the tropomyosin protein family. Tropomyosin ...
    https://medlineplus.gov/genetics/gene/tpm3 - Genetics
  4. MYH7 gene 
    The MYH7 gene provides instructions for making a protein known as the beta (β)-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type ...
    https://medlineplus.gov/genetics/gene/myh7 - Genetics
  5. CHRNE gene 
    The CHRNE gene provides instructions for making the epsilon (ε) component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found ...
    https://medlineplus.gov/genetics/gene/chrne - Genetics
  6. IGHMBP2 gene 
    The IGHMBP2 gene provides instructions for making an enzyme called immunoglobulin mu DNA binding protein 2 (IGHMBP2). This enzyme functions as a helicase, ...
    https://medlineplus.gov/genetics/gene/ighmbp2 - Genetics
  7. EDN3 gene 
    The EDN3 gene provides instructions for making a protein called endothelin 3. Proteins in the endothelin family are produced in various cells and tissues, ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  8. MYBPC3 gene 
    ... ventricular noncompaction. More About This Health Condition MedlinePlus Genetics provides information about Familial dilated cardiomyopathy More About ...
    https://medlineplus.gov/genetics/gene/mybpc3 - Genetics
  9. RYR1 gene 
    The RYR1 gene provides instructions for making a protein called ryanodine receptor 1 (also called the RYR1 channel). This protein is part of a group of related ...
    https://medlineplus.gov/genetics/gene/ryr1 - Genetics
  10. AGL gene 
    ... heterogeneity of mutations in patients with glycogen storage disease type III from ... Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in ...
    https://medlineplus.gov/genetics/gene/agl - Genetics