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

Mitochondrial complex I deficiency results in a plethora of often severe clinical phenotypes manifesting in early childhood. Here, we report on three complex-I-deficient adult subjects with relatively mild clinical symptoms, including isolated, progressive exercise-induced myalgia and exercise intol...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Sánchez-Caballero, Laura, Ruzzenente, Benedetta, Bianchi, Lucas, Assouline, Zahra, Barcia, Giulia, Metodiev, Metodi D., Rio, Marlène, Funalot, Benoît, van den Brand, Mariël A.M., Guerrero-Castillo, Sergio, Molenaar, Joery P., Koolen, David, Brandt, Ulrich, Rodenburg, Richard J., Nijtmans, Leo G., Rötig, Agnès
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5005453/
https://ncbi.nlm.nih.gov/pubmed/27374773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.05.022
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