Associated Papers
A New Case of a Neurodevelopmental Disorder and Myoclonic Dystonia Associated with the C.1404del Variant of the ATP5F1A Gene.
Krastev G et al.
International Medical Case Reports Journal, 2026
ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish.
Xian C et al.
Journal of Translational Medicine, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.
Harrer P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
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