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Article

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

Human mutation - 1 May 2003

Thuillier Laure, Rostane Hidayeth, Droin Veronique, Demaugre France, Brivet Michèle, Kadhom Noman, Prip-Buus Carina, Gobin Stéphanie, Saudubray Jean-Marie, Bonnefont Jean-Paul

Abstract excerpt

Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common inherited disease of the mitochondrial long-chain fatty acid (LCFA) oxidation, may result in distinct clinical phenotypes, namely a mild adult muscular form and a severe hepatocardiomuscular disease with an onset in the neonatal period or in infancy. In order to understand the mechanisms underlying the difference in severity between these...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12673791
DOI: 10.1002/humu.10201

Genes

CPT2

Variants

Provenance

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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