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Article

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Molecular genetics and metabolism - 1 Apr 2018

Fontaine Monique, Kim Isabelle, Dessein Anne-Frédérique, Mention-Mulliez Karine, Dobbelaere Dries, Douillard Claire, Sole Guilhem, Schiff Manuel, Jaussaud Roland, Espil-Taris Caroline, Boutron Audrey, Wuyts Wim, Acquaviva Cécile, Vianey-Saban Christine, Roland Dominique, Joncquel-Chevalier Curt Marie, Vamecq Joseph

Abstract excerpt

Carnitine palmitoyltransferase type 2 (CPT2) deficiency, a mitochondrial fatty acid oxidation disorder (MFAOD), is a cause of myopathy in its late clinical presentation. As for other MFAODs, its diagnosis may be evocated when blood acylcarnitine profile is abnormal. However, a lack of abnormalities or specificity in this profile is not exclusive of CPT2 deficiency. Our retrospective study reports clinical and...

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Source

Identifiers

PMID: 29478820
DOI: 10.1016/j.ymgme.2018.02.005

Genes

CPT2

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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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