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A New Case of a Neurodevelopmental Disorder and Myoclonic Dystonia Associated with the C.1404del Variant of the ATP5F1A Gene

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To present a rare case of neurodevelopmental disorder and myoclonic dystonia associated with the C.1404del variant of the ATP5F1A gene.
Case report of a patient with ATP5F1A mutation
Clinical symptoms associated with ATPase mutations
Comparison to previous misdiagnoses including cerebral palsy
Identified C.1404del mutation in ATP5F1A gene
Patient showed symptoms of myoclonic dystonia
Previous misdiagnosis as cerebral palsy corrected after mutation diagnosis
Clinical symptoms included hypotonia, epilepsy, and spasticity

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Case report highlights the diagnosis of neurodevelopmental disorder linked to ATP5F1A gene mutation, suggesting importance for clinical practices.

Krastev et al. (2026) studied this question.

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Case report highlights the diagnosis of neurodevelopmental disorder linked to ATP5F1A gene mutation, suggesting importance for clinical practices.