Exome sequencing reveals a novel Moroccan founder mutation in<i>SLC19A3</i>as a new cause of early-childhood fatal Leigh syndrome

Abstract excerpt

Leigh syndrome is an early onset, often fatal progressive neurodegenerative disorder caused by mutations in the mitochondrial or nuclear DNA. Until now, mutations in more than 35 genes have been reported to cause Leigh syndrome, indicating an extreme genetic heterogeneity for this disorder, but still only explaining part of the cases. The possibility of whole exome sequencing enables not only mutation detection...

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