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

Autor: Weikang Ma, Livija Medne, Henk Granzier, Josine M. de Winter, Sandra Donkervoort, Benno Küsters, Gwimoon Seo, Coen A.C. Ottenheijm, A. Reghan Foley, Nicol C. Voermans, Carsten G. Bönnemann, Jose R. Pinto, Peter M. Kekenes-Huskey, Erik-Jan Kamsteeg, Steven A. Moore, Payam Mohassel, Ying Hu, Martijn van de Locht, Darren T. Hwee, Thomas C. Irving, Leon Begthel, Stefan Conijn, Fady I. Malik, Colin Quinn, Kalyan Immadisetty

Publikováno v: Journal of Clinical Investigation, 131
Journal of Clinical Investigation, 131(9):e145700. The American Society for Clinical Investigation
Journal of Clinical Investigation, 131, 9
J Clin Invest
van de Locht, M, Donkervoort, S, de Winter, J M, Conijn, S, Begthel, L, Kusters, B, Mohassel, P, Hu, Y, Medne, L, Quinn, C, Moore, S A, Foley, A R, Seo, G, Hwee, D T, Malik, F I, Irving, T, Ma, W, Granzier, H L, Kamsteeg, E-J, Immadisetty, K, Kekenes-Huskey, P, Pinto, J R, Voermans, N, Bönnemann, C G & Ottenheijm, C A C 2021, ' Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium ', Journal of Clinical Investigation, vol. 131, no. 9, e145700 . https://doi.org/10.1172/JCI145700

Troponin C (TnC) is a critical regulator of skeletal muscle contraction; it binds Ca(2+) to activate muscle contraction. Surprisingly, the gene encoding fast skeletal TnC (TNNC2) has not yet been implicated in muscle disease. Here, we report 2 famili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb1847527335eb416e2c2cd14d60167c
http://hdl.handle.net/2066/233733