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