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Article

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.

Neurology - 19 Nov 2013

Auré Karine, Dubourg Odile, Jardel Claude, Clarysse Lucie, Sternberg Damien, Fournier Emmanuel, Laforêt Pascal, Streichenberger Nathalie, Petiot Philippe, Gervais-Bernard Hélène, Vial Christophe, Bedat-Millet Anne-Laure, Drouin-Garraud Valérie, Bouillaud Frédéric, Vandier Christophe, Fontaine Bertrand, Lombès Anne

Abstract excerpt

OBJECTIVE: To report that homoplasmic deleterious mutations in the mitochondrial DNA MT-ATP6/8 genes may be responsible for acute episodes of limb weakness mimicking periodic paralysis due to channelopathies and dramatically responding to acetazolamide. METHODS: Mitochondrial DNA sequencing and r...

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Source

Identifiers

PMID: 24153443
DOI: 10.1212/01.wnl.0000436067.43384.0b

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24153443-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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