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Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Laura Sanchez-Caballero,Benedetta Ruzzenente,Lucas Bianchi,Zahra Assouline,Giulia Barcia,Metodi D. Metodiev,Marlene Rio,Benoit Funalot,Mariel A. M. Van Den Brand,Sergio Guerrero-Castillo,Joery P. Molenaar,David Koolen,Ulrich Brandt,Richard J. Rodenburg,Leo G. Nijtmans,Agnes Rotig

Biochimica et Biophysica Acta (BBA) - Bioenergetics（2016）

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关键词
Inborn Errors of Metabolism
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