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Results 1 - 10 of 10 for Genetic neuromuscular disease
  1. 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 ...
  2. 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 ...
  3. The TPM3 gene provides instructions for making a protein called slow muscle alpha (α)-tropomyosin, which is part of the tropomyosin protein family. Tropomyosin ...
  4. 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 ...
  5. The CHRNE gene provides instructions for making the epsilon (ε) component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found ...
  6. The IGHMBP2 gene provides instructions for making an enzyme called immunoglobulin mu DNA binding protein 2 (IGHMBP2). This enzyme functions as a helicase, ...
  7. The EDN3 gene provides instructions for making a protein called endothelin 3. Proteins in the endothelin family are produced in various cells and tissues, ...
  8. ... ventricular noncompaction. More About This Health Condition MedlinePlus Genetics provides information about Familial dilated cardiomyopathy More About ...
  9. 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 ...
  10. ... heterogeneity of mutations in patients with glycogen storage disease type III from ... Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in ...