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MYOT gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

MYOT gene

The MYOT gene provides instructions for making the protein myotilin, which is essential for the structure and stability of heart and skeletal muscles.

Normal Function

The MYOT gene provides instructions for making a protein called myotilin. Myotilin is found in heart (cardiac) muscle and in the muscles used for movement (skeletal muscle). Within muscle fibers, structures called sarcomeres generate the force needed for muscles to contract. Sarcomeres are linked together by structures called Z-discs to form myofibrils, which are the basic units of muscle fibers.

Myotilin is found within Z-discs, where it binds with other proteins to help organize and stabilize the sarcomeres. The organization of sarcomeres and myofibrils provides the strength and stability needed during repeated cycles of muscle contraction and relaxation.

Health Conditions Related to Genetic Changes

Myofibrillar myopathy

Variants (also called mutations) in the MYOT gene can cause myofibrillar myopathy, a condition characterized by muscle weakness (myopathy) that worsens over time. Approximately 10 percent of people with myofibrillar myopathy have a variant in the MYOT gene.

Most of these variants lead to the substitution of one protein building block (amino acid) for another in myotilin, causing cells to produce a version of the protein that does not function properly. The altered protein impairs the function of Z-discs, which disrupts the organization and structure of myofibrils. Myofibrils that are not organized correctly break down and form clumps (aggregates) of abnormal proteins within the sarcomere, leading to the myopathy seen in affected individuals.

Other Names for This Gene

  • TTID

Frequently Asked Questions

While no cure exists, regular low‑impact exercise (e.g., swimming, cycling) and a balanced diet rich in protein and antioxidants can help maintain muscle strength and overall health. Physical therapy tailored to individual needs can also improve function and reduce fatigue.
definitive diagnosis requires a combination of a muscle biopsy showing Z‑disc disorganization and protein aggregates, followed by targeted genetic testing (next‑generation sequencing panels or whole‑exome sequencing) that identifies pathogenic variants in MYOT. Confirmation guides prognosis and family counseling.
Because MYOT‑related myofibrillar myopathy is inherited in an autosomal dominant pattern, each child has a 50 % chance of inheriting the mutation. Prenatal testing via chorionic villus sampling or amniocentesis, or pre‑implantation genetic diagnosis (PGD) during IVF, can identify affected embryos before implantation. Genetic counseling is essential to discuss risks and options.
Patients often notice muscle weakness in the hands, feet, or neck that worsens over months or years. Early symptoms may include difficulty with fine motor tasks, trouble climbing stairs, or a gradual decline in walking endurance. Early diagnosis can help manage progression and plan supportive therapies.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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