Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Title:
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Author:
Feichtinger, René G. Oláhová, Monika Kishita, Yoshihito Garone, Caterina Kremer, Laura S. Yagi, Mikako Uchiumi, Takeshi Jourdain, Alexis A. Thompson, Kyle D’Souza, Aaron R. Kopajtich, Robert Alston, Charlotte L. Koch, Johannes Sperl, Wolfgang Mastantuono, Elisa Strom, Tim M. Wortmann, Saskia B. Meitinger, Thomas Pierre, Germaine Chinnery, Patrick F. Chrzanowska-Lightowlers, Zofia M. Lightowlers, Robert N. DiMauro, Salvatore Calvo, Sarah E. Mootha, Vamsi K. Moggio, Maurizio Sciacco, Monica Comi, Giacomo P. Ronchi, Dario Murayama, Kei Ohtake, Akira Rebelo-Guiomar, Pedro Kohda, Masakazu Kang, Dongchon Mayr, Johannes A. Taylor, Robert W. Okazaki, Yasushi Minczuk, Michal Prokisch, Holger