Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

BACKGROUND: Mitochondrial diseases, also known as oxidative phosphorylation (OXPHOS) disorders, with a prevalence rate of 1:5000, are the most frequent inherited metabolic diseases. Leigh Syndrome French Canadian type (LSFC), is caused by mutations in the nuclear gene (2p16) leucine-rich pentatricop...

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Detalles Bibliográficos
Autores principales: Piro, Ettore, Serra, Gregorio, Antona, Vincenzo, Giuffrè, Mario, Giorgio, Elisa, Sirchia, Fabio, Schierz, Ingrid Anne Mandy, Brusco, Alfredo, Corsello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7517646/
https://www.ncbi.nlm.nih.gov/pubmed/32972427
http://dx.doi.org/10.1186/s13052-020-00903-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7517646/
https://www.ncbi.nlm.nih.gov/pubmed/32972427
http://dx.doi.org/10.1186/s13052-020-00903-7

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