A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report

Spinocerebellar ataxia 34 (SCA34) is an autosomal dominant inherited disease characterized by age-related cerebellar degeneration and ataxia caused by mutations in the Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) gene. The ELOVL4 enzyme catalyzes the biosynthesis of both very long chain satur...

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Detalles Bibliográficos
Autores principales: Gyening, Yeboah Kofi, Boris, Keren, Cyril, Mignot, Brush, Richard S., Nassogne, Marie-Cécile, Agbaga, Martin-Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10416515/
https://www.ncbi.nlm.nih.gov/pubmed/37568198
http://dx.doi.org/10.1186/s40478-023-01628-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10416515/
https://www.ncbi.nlm.nih.gov/pubmed/37568198
http://dx.doi.org/10.1186/s40478-023-01628-4

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