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Scientists have discovered more than 100 gene mutations that may play a role in the development of cardiomyopathy. The following genes have been linked to cardiomyopathy:
- Actin. A type of sarcomere protein gene, a group of genes that form the basic structure of muscle functions. Actin is believed to affect the contractions of the heart, and defects in this gene have been found to lead to hypertrophic cardiomyopathy.
- Desmin. An intermediate filament between cardiac and skeletal muscle. A mutation of this gene has been linked to cases of inherited cardiomyopathy.
- Dystrophin. A gene that plays a role in muscle function. Defects in this gene can lead to an inability for muscle to regenerate. Specific dystrophin gene mutations have been linked to cardiomyopathy, muscular dystrophy and other disorders.
- Tafazzin. A gene involved in musculoskeletal function.
- ß-myosin. One of a family of genes responsible for creating myosin, a protein involved in the contraction and relaxation of the heart muscle.
- Troponin T. A gene responsible for creating troponin T, a protein involved in the contraction and relaxation of the heart muscle.
Additional genetic research may lead to new tests, treatments and prevention methods for cardiomyopathy.
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