Over the last decade, many different telethonin mutations have been described, including recessive nonsense mutations which are associated with limb-girdle muscular dystrophy type 2 (LGMD2G) [24–26] and heterozygous missense mutations which are associated with dilated (DCM) and hypertrophic (HCM) forms of cardiomyopathy [7, 27, 28] as well as with intestinal pseudo-obstruction [29]. The gene discussed is TCAP; the disease is cardiomyopathy.