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

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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Bibliographic Details
Main Authors: Osama Y. Muthaffar, Angham Abdulrhman Abdulkareem, Abrar Ashi, Muhammad Imran Naseer
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Pediatrics
Subjects:
WES
LRPPRC
Leigh syndrome
French-Canadian disorder
epilepsy
developmental delay
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1288542/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1288542/full

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