Article

Biallelic Variants in <i>LIPT2</i> as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum

2024-05-09

Abstract excerpt

<h4>Introduction: </h4> Lipoyl transferase 2 is involved in biosynthesis of the lipoate. Lipoate is the cofactor for the glycine cleavage system and four dehydrogenase enzymes. Biallelic variants in LIPT2 causing severe neonatal encephalopathy was first described in 2017. <h4>Methods:</h4> Clinical data was collected by retrospective chart review after obtaining consent from parents. The pathogenicity of these var...

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Literature Corpus work: 0f12cb20-8507-55d0-9ac8-34bd1e921892
DOI: 10.20944/preprints202405.0574.v1

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