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

BACKGROUND: The 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 f...

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Detalles Bibliográficos
Autores principales: Muthaffar, Osama Y., Abdulkareem, Angham Abdulrhman, Ashi, Abrar, Naseer, Muhammad Imran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690952/
https://www.ncbi.nlm.nih.gov/pubmed/38046674
http://dx.doi.org/10.3389/fped.2023.1288542

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690952/
https://www.ncbi.nlm.nih.gov/pubmed/38046674
http://dx.doi.org/10.3389/fped.2023.1288542

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