Titin-related distal myopathy (OMIM #600334, tibial muscular dystrophy, Udd myopathy) is an autosomal dominant late-onset disease presenting with weakness of ankle dorsiflexion. The disease does not cause severe disability or shortened lifespan. Muscle magnetic resonance imaging reveals highly selective...
The gene defects underlying autosomal dominant, late onset distal myopathy tibial muscular dystrophy (TMD, OMIM #600334 Udd myopathy) are in the titin ( TTN ) gene. TTN codes for the sarcomeric giant protein titin spanning one half sarcomere in striated muscle. We reported the first TMD ...