Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

BACKGROUND: Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a process for which BCS1L protein is indispensable. Mutations in the BCS1L gene c...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Tegelberg, Saara, Tomašić, Nikica, Kallijärvi, Jukka, Purhonen, Janne, Elmér, Eskil, Lindberg, Eva, Nord, David Gisselsson, Soller, Maria, Lesko, Nicole, Wedell, Anna, Bruhn, Helene, Freyer, Christoph, Stranneheim, Henrik, Wibom, Rolf, Nennesmo, Inger, Wredenberg, Anna, Eklund, Erik A., Fellman, Vineta
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5399415/
https://ncbi.nlm.nih.gov/pubmed/28427446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0624-2
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