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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Ital J Pediatr
Main Authors: Piro, Ettore, Serra, Gregorio, Antona, Vincenzo, Giuffrè, Mario, Giorgio, Elisa, Sirchia, Fabio, Schierz, Ingrid Anne Mandy, Brusco, Alfredo, Corsello, Giovanni
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7517646/
https://ncbi.nlm.nih.gov/pubmed/32972427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-020-00903-7
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados