Telethonin-deficiency initially presenting as a congenital muscular dystrophy.

Congenital muscular dystrophies are defined by congenital or infantile onset of muscle weakness; while 12 culprit genes have been identified, many cases remain molecularly uncharacterized. On the other hand, mutations in the telethonin gene (TCAP) have been associated with a rare form of recessive limb girdle muscular dystrophy, usually presenting in the… (More)