Associated Papers
A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report.
Muthaffar OY et al.
Frontiers in Pediatrics, 2023
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Oláhová M et al.
Brain : a Journal of Neurology, 2015
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