Article

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report

2024-07-29

Abstract excerpt

<title>Abstract</title> <p>Pathogenic <italic>WDR45 </italic>variants cause neurodevelopmental disorders (NDDs) including β-propeller protein-associated neurodegeneration, characterized by developmental delay (DD), ataxia and extrapyramidal signs. Our proband presented at 22 months with DD and now, aged 7, shows intellectual disability, ataxia and movement disorder. MRI is compatible with Leigh syndrome, a mitoch...

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Literature Corpus work: 692e5900-58ff-5b8b-a921-7ca990d97586
DOI: 10.21203/rs.3.rs-4575643/v1

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