Pathogenic TNNI1 Variants Disrupt Sarcomere Contractility Resulting in Hypo- and Hypercontractile Muscle Disease
Sandra Donkervoort,Martijn van de Locht,Dario Ronchi,Janine Reunert,Catriona A. McLean,Maha Zaki,Rotem Orbach,Josine M. de Winter,Stefan Conijn, Daan Hoomoedt,Osorio Lopes Abath Neto,Francesca Magri,Angela N. Viaene,A. Reghan Foley,Svetlana Gorokhova,Veronique Bolduc,Ying Hu, Nicole Acquaye,Laura Napoli,Julien H. Park,Kalyan Immadisetty,Lee B. Miles,Mona Essawi, Salar McModie,Leonardo F. Ferreira,Simona Zanotti,Sarah B. Neuhaus,Livija Medne,Nagham ElBagoury,Kory R. Johnson, Yong Zhang,Nigel G. Laing,Mark R. Davis,Robert J. Bryson-Richardson,Darren T. Hwee,James J. Hartman,Fady I. Malik,Peter M. Kekenes-Huskey,Giacomo Pietro Comi,Wessam Sharaf-Eldin,Thorsten Marquardt,Gianina Ravenscroft,Carsten G. Bonnemann,Coen A. C. Ottenheijm Science Translational Medicine（2024）
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