Work

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

Year: 2026

Type: article

Abstract: : 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. Keywords: mutation, ATP synthase, dystonia, myoclonus, epilepsy, spasticity

Source: International Medical Case Reports Journal

DOI: 10.2147/imcrj.s573179

Authors: Georgi Krastev, Martin Danis

Institution: Slovak Medical University

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,320