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Article

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

Italian journal of pediatrics - 24 Sept 2020

Piro Ettore, Serra Gregorio, Antona Vincenzo, Giuffrè Mario, Giorgio Elisa, Sirchia Fabio, Schierz Ingrid Anne Mandy, Brusco Alfredo, Corsello Giovanni

Abstract excerpt

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 pentatricopeptide repeat-containing (LRPPRC). It is an autosomal recessive neurogenetic OXPHOS disorder, phenotypically...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32972427
DOI: 10.1186/s13052-020-00903-7
PMCID: PMC7517646

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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