Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Charlotte L. Alston, Alison G. Compton, Luke E. Formosa, Valentina Strecker, Monika Oláhová, Tobias B. Haack, Joél Smet, Katrien Stouffs, Peter Diakumis, Elżbieta Ciara, David Cassiman, Nadine Romain, John W. Yarham, Langping He, Boel De Paepe, Arnaud V. Vanlander, Sara Seneca, René G. Feichtinger, Rafal Płoski, Dariusz RokickiEwa Pronicka, Ronald G. Haller, Johan L K Van Hove, Melanie Bahlo, Johannes A. Mayr, Rudy Van Coster, Holger Prokisch, Ilka Wittig, Michael T. Ryan, David R. Thorburn, Robert W. Taylor

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