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

• Main Authors: Osama Y. Muthaffar (Author), Angham Abdulrhman Abdulkareem (Author), Abrar Ashi (Author), Muhammad Imran Naseer (Author)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2023-11-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

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...