Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin


Hackman, P., Vihola, A., Haravuori, H., Marchand, S., Sarparanta, J., De Seze, J., Labeit, S., Witt, C., Peltonen, L., Richard, I. and Udd, B.:

Am J Hum Genet 71 (2002) 492-500.

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