Cerebellum (London, England)HumansAge of OnsetPhenotypeMaleFemale
VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.
Renata Silva de Mendonça, Ana Beatriz Arruda Santana, Andreia Braga Mota Azzoni, Ana Luiza Viegas de Almeida, Matheus Augusto Araujo Castro, Leandro Tavares Lucato, Fernando Kok, Claudio M de Gusmao
Published: 202510.1007/s12311-025-01938-4
Abstract
The VPS13 family plays a crucial role in mitochondrial stabilization. Biallelic pathogenic variants in VPS13D are classically associated with autosomal recessive ataxia 4 (OMIM #607317), but phenotypic expression is increasingly recognized in diverse…
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