LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

The French-Canadian variant of COX-deficient Leigh syndrome (LSFC) is unique to Québec and caused by a founder mutation in the LRPPRC gene. Using whole exome sequencing, Oláhová et al. identify mutations in this gene associated with multisystem mitochondrial disease and early-onset neurodevelopmenta...

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Bibliographic Details
Main Authors: Oláhová, Monika, Hardy, Steven A., Hall, Julie, Yarham, John W., Haack, Tobias B., Wilson, William C., Alston, Charlotte L., He, Langping, Aznauryan, Erik, Brown, Ruth M., Brown, Garry K., Morris, Andrew A. M., Mundy, Helen, Broomfield, Alex, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Moeslinger, Dorothea, Koch, Johannes, Stettner, Georg M., Bonnen, Penelope E., Prokisch, Holger, Lightowlers, Robert N., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Taylor, Robert W.
Format: Online
Language:English
Published: Oxford University Press 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655343/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655343/

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