Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia

BACKGROUND: VPS13D is a large ubiquitin-binding protein playing an essential role in mitophagy by regulating mitochondrial fission. Recently, VPS13D biallelic pathogenic variants have been reported in patients displaying variable neurological phenotypes, with an autosomic recessive inheritance. The...

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Detalles Bibliográficos
Autores principales: Durand, Christelle M., Angelini, Chloé, Michaud, Vincent, Delleci, Claire, Coupry, Isabelle, Goizet, Cyril, Trimouille, Aurelien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8840315/
https://www.ncbi.nlm.nih.gov/pubmed/35151251
http://dx.doi.org/10.1186/s12883-022-02553-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8840315/
https://www.ncbi.nlm.nih.gov/pubmed/35151251
http://dx.doi.org/10.1186/s12883-022-02553-0

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