Article

An Atypical <em>SURF1</em> -Associated Leigh Syndrome Phenotype Presenting with Ocular Dyspraxia and Nocturnal Disturbances

2026-08-14

Abstract excerpt

<h4>Background: </h4> Leigh syndrome is an uncommon mitochondrial neurodegenerative disease resulting from impaired cellular energy production, particularly abnormalities affecting oxidative phosphorylation. Among the nuclear genes implicated in the disorder, SURF1 is a recognized cause of childhood-onset disease and is frequently associated with lesions affecting the brainstem. <h4>Objective:</h4> This case repor...

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Literature Corpus work: 5f7e274b-6a8a-5b98-af05-9887b3f1f76e
DOI: 10.20944/preprints202608.0976.v1

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