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

Summary

Homoplasmic mutations in the MT-ATP6/8 genes may cause episodic weakness responding to acetazolamide treatment.

Authors Auré K, Dubourg O, Jardel C, Clarysse L, Sternberg D, Fournier E, Laforêt P, Streichenberger N, Petiot P, Gervais-Bernard H, Vial C, Bedat-Millet AL, Drouin-Garraud V, Bouillaud F, Vandier C, Fontaine B, Lombès A
Journal Neurology
Publication Date 2013 Nov 19;81(21):1810-8
PubMed 24153443
DOI 10.1212/01.wnl.0000436067.43384.0b

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