van de Locht M, Donkervoort S, de Winter JM, Conijn S, Begthel L, Kusters B, Mohassel P, Hu Y, Medne L, Quinn C, Moore SA, Foley AR, Seo G, Hwee DT, Malik FI, Irving T, Ma W, Granzier HL, Kamsteeg EJ, Immadisetty K, Kekenes-Huskey P, Pinto JR, Voermans N, Bonnemann CG, Ottenheijm CA

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.

J Clin Invest 131:145700 (2021)
DOI:10.1172/JCI145700