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Article

Females with PDHA1 gene mutations: a diagnostic challenge.

Mitochondrion - 1 Jun 2006

Willemsen Marjolein, Rodenburg Richard J T, Teszas Alexandra, van den Heuvel Lambert, Kosztolanyi Gyorgy, Morava Eva

Abstract excerpt

Biochemical analysis was performed in muscle tissue and in fibroblasts of four unrelated females consecutively diagnosed with a 'de novo' point mutation in the PDHA1 gene. Pyruvate dehydrogenase E1 subunit deficiency was confirmed in the muscle sample of all patients, however, in three out of fou...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16713755
DOI: 10.1016/j.mito.2006.03.001

Genes

PDHA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16713755-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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