Condition: Leigh syndrome , French Canadian type
rs119466000 in
LRPPRC gene and
Leigh syndrome , French Canadian type
PMID 12529507 2003 Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
PMID 21266382 2011 LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
PMID 17050673 2006 Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex.
PMID 29152527 2019 Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French-Canadian Type Outside of Québec.