Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement

Titin, encoded by the 364-exon TTN gene [OMIM #188840], is the largest protein in nature [1]. It acts as one of the main sarcomere components, each titin molecule bridges half of the entire sarcomere to form a continuous elastic myofilament. These myofilaments provide a scaffold for sarcomere assembly during muscle development, maintain sarcomeric structural integrity, generate passive tension, and serve as key mechanosensing and signaling hubs [2,3].

Source: Neuromuscular Disorders - March 13, 2019 Category: Neurology Authors: Lin Ge, Xiaona Fu, Wei Zhang, Dong Wang, Zhaoxia Wang, Yun Yuan, Ikuya Nonaka, Hui Xiong Source Type: research