Telethonin is a 167 amino acid protein of 19 kDa which is highly expressed in skeletal and cardiac muscles and encoded by the two exons of the TCAP gene on chromosome 17q12 [1]. Located at the Z-disc, it provides binding sites to link titin and other Z-disc associated proteins during sarcomere assembly. There is only a small number of known patients with telethoninopathy worldwide, mainly of Brazilian descent [2,3]. Loss-of-function mutations mutations in TCAP cause autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) [1–6], AR congenital muscular dystrophy [7] with early joint contractures [8].

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