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Gene Review

Myot  -  myotilin

Mus musculus

Synonyms: 5530402I04Rik, Myo, Myofibrillar titin-like Ig domains protein, Myotilin, Titin immunoglobulin domain protein, ...
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Disease relevance of Myot


High impact information on Myot


Biological context of Myot

  • Finally, endogenous myotilin is induced at later stages of Z-disc assembly in C(2)C(12) cells indicating conservation between mouse and human promoter region [2].
  • Myotilin is expressed late during human myofibrillogenesis and localizes to Z-discs in mature sarcomere [2].

Anatomical context of Myot


  1. Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A. Mologni, L., Salmikangas, P., Fougerousse, F., Beckmann, J.S., Carpén, O. Mech. Dev. (2001) [Pubmed]
  2. Characterization of mouse myotilin and its promoter. Mologni, L., Moza, M., Lalowski, M.M., Carpén, O. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  3. Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. Moza, M., Mologni, L., Trokovic, R., Faulkner, G., Partanen, J., Carp??n, O. Mol. Cell. Biol. (2007) [Pubmed]
  4. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hauser, M.A., Horrigan, S.K., Salmikangas, P., Torian, U.M., Viles, K.D., Dancel, R., Tim, R.W., Taivainen, A., Bartoloni, L., Gilchrist, J.M., Stajich, J.M., Gaskell, P.C., Gilbert, J.R., Vance, J.M., Pericak-Vance, M.A., Carpen, O., Westbrook, C.A., Speer, M.C. Hum. Mol. Genet. (2000) [Pubmed]
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