A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.

doi:10.1136/jnnp-2013-306799

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Article

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.

Journal of neurology, neurosurgery, and psychiatry - 1 Jun 2015

Tchikviladzé Maya, Gilleron Mylène, Maisonobe Thierry, Galanaud Damien, Laforêt Pascal, Durr Alexandra, Eymard Bruno, Mochel Fanny, Ogier Hélène, Béhin Anthony, Stojkovic Tanya, Degos Bertrand, Gourfinkel-An Isabelle, Sedel Frederic, Anheim Mathieu, Elbaz Alexis, Viala Karine, Vidailhet Marie, Brice Alexis, Jardel Claude, Lombès Anne

Abstract excerpt

OBJECTIVE: Diseases due to mutations of POLG gene, encoding the mitochondrial DNA polymerase, are reputed to have very diverse clinical presentations and have been proposed to cause up to 25% adult mitochondrial diseases. Our objective was the evaluation of the specificity and sensitivity of the signs encountered with POLG mutations. DESIGN: Forty-four patients out of 154 with sequenced POLG gene had mutations...

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PMID: 25118206
DOI: 10.1136/jnnp-2013-306799

Genes

POLG

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

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