LATE BREAKING NEWS ORAL PRESENTATION: LBO 1 Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium
Autor: | van de Locht, Martijn, Donkervoort, Sandra, de Winter, Josine, Conijn, Stefan, Kusters, Benno, Hu, Ying, Foley, Reghan, Seo, Gwimoon, Hwee, Darren, Irving, Thomas, Ma, Weikang, Granzier, Henk, Immadisetty, Kalyan, Kekenes-Huskey, Peter, Pinto, José, Voermans, Nicol, Bönnemann, Carsten, Ottenheijm, Coen |
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Zdroj: | In Neuromuscular Disorders October 2020 30 Supplement 1:S166-S166 |
Databáze: | ScienceDirect |
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