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

ATP synthase (ATPase) is a mitochondrial enzyme responsible for the majority of ATP production. Disease phenotypes associated with mutations in ATPase subunits are extremely rare. To date, only four types of ATPase subunit mutations have been described in detail, with heterogeneous clinical manifestations ranging from hypotonia to epilepsy, movement disorders, developmental delay, and intellectual disability. In this work, in the form of a case report, we present a rare case of a patient with ATPase mutation and knowledge of the clinical symptoms associated with ATPase mutations has a positive benefit for neurological and medical practice, because as in the case of our patient, which was the whole life misdiagnosed with cerebral palsy until the ATP5F1A mutation was diagnosed.