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Results 1 - 9 of 9 for TTN
  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. Centronuclear myopathy 
    ... caused by mutations in the DNM2, BIN1, or TTN gene. The proteins produced from the DNM2 and ... and relax normally, resulting in muscle weakness.The TTN gene provides instructions for making a protein called ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  3. Hereditary myopathy with early respiratory failure 
    ... worldwide. HMERF is caused by mutations in the TTN gene. This gene provides instructions for making a ... chemical signaling and in assembling new sarcomeres.The TTN gene mutations responsible for HMERF lead to the ...
    https://medlineplus.gov/...y-myopathy-with-early-respiratory-failure - Genetics
  4. Familial dilated cardiomyopathy 
    ... ensure their proper functioning.Mutations in one gene, TTN, account for approximately 20 percent of cases of familial dilated cardiomyopathy. The TTN gene provides instructions for making a protein called ...
    https://medlineplus.gov/.../familial-dilated-cardiomyopathy - Genetics
  5. Tibial muscular dystrophy 
    ... European families without Finnish ancestry. Mutations in the TTN gene cause tibial muscular dystrophy. This gene provides ... and in assembling new sarcomeres.Mutations in the TTN gene alter the structure and function of titin. ...
    https://medlineplus.gov/genetics/condition/tibial-muscular-dystrophy - Genetics
  6. Early-onset myopathy with fatal cardiomyopathy 
    ... by variants (also known as mutations) in the TTN gene. This gene provides instructions for making a ... chemical signaling and in assembling new sarcomeres.The TTN gene variants involved in EOMFC lead to the ...
    https://medlineplus.gov/...-onset-myopathy-with-fatal-cardiomyopathy - Genetics
  7. Limb-girdle muscular dystrophy 
    ... types 2D, 2E, 2C, and 2F respectively.A TTN gene mutation causes limb-girdle muscular dystrophy type ... PLEC POGLUT1 POMT1 POMT2 SGCA SGCB SGCD SGCG TTN Additional Information from NCBI Gene: DAG1 DNAJB6 GMPPB ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics
  8. Arrhythmogenic right ventricular cardiomyopathy 
    ... DES DSC2 DSP JUP LMNA PKP2 RYR2 TGFB3 TTN Additional Information from NCBI Gene: CTNNA3 DSG2 PLN ...
    https://medlineplus.gov/...hmogenic-right-ventricular-cardiomyopathy - Genetics
  9. Familial hypertrophic cardiomyopathy 
    ... and environmental factors. MYBPC3 MYH7 PRKAG2 TNNI3 TNNT2 TTN Additional Information from NCBI Gene: ACTC1 ACTN2 CALR3 ...
    https://medlineplus.gov/.../familial-hypertrophic-cardiomyopathy - Genetics