Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
van de Locht M, Donkervoort S, de Winter JM, Conijn S, Begthel L, Kusters B, Mohassel P, Hu Y, Medne L, Quinn C, et al. J Clin Invest. 2021 May 3; 131(9).