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
BackgroundThe mitochondria are a cellular power house. Tissues are involved in frequent energy consumption, and any failure or irregularity in the continuous energy production could lead to abnormalities. The leucine-rich pentatricopeptide repeat (LRPPRC) gene is one of the mitochondrial-related fun...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-11-01T00:00:00Z.
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