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Article

Leigh's disease due to a new mutation in the PDHX gene.

Annals of neurology - 1 Apr 2006

Schiff Manuel, Miné Manuele, Brivet Michèle, Marsac Cécile, Elmaleh-Bergés Monique, Evrard Philippe, Ogier de Baulny Hélène

Abstract excerpt

OBJECTIVE: To describe the clinical course, neuroradiological presentation, biochemical and molecular studies of a new patient with pyruvate dehydrogenase complex (PDHc) deficiency. To compare this case with the data on other published cases. METHODS: Brain magnetic resonance imaging (MRI), basal metabolic investigations with lactate measurements in body fluids, PDHc activity assay on cultured skin fibroblasts,...

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Source

Identifiers

PMID: 16566017
DOI: 10.1002/ana.20818

Genes

PDHX

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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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