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...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Online |
Language: | English |
Published: |
Oxford University Press
2015
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655343/ |