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, 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, Bönnemann CG, Ottenheijm CA.
van de Locht M, et al.
J Clin Invest. 2021 May 3;131(9):e145700. doi: 10.1172/JCI145700.
J Clin Invest. 2021.
PMID: 33755597
Free PMC article.