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Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.

Pediatric neurology - 1 Jan 2025

Sen Kuntal, Vera Alonso Zea, Puronurmi Anna, Gropman Andrea, Wongkittichote Parith, Ganetzky Rebecca, Autio Kaija, Kastaniotis Alexander

Abstract excerpt

BACKGROUND: Lipoyl transferase 2 is involved in the biosynthesis of 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. METHODS: Clinical data were collected by retrospective chart review after obtaining consent from parents. The pathogenicity of these variants was further...

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PMID: 39536593
DOI: 10.1016/j.pediatrneurol.2024.09.013

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