Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures

Neuroacanthocytosis (NA) is a diverse group of disorders in which nervous system abnormalities co-occur with irregularly shaped red blood cells called acanthocytes. Chorea-acanthocytosis is the most common of these syndromes and is an autosomal recessive disease caused by mutations in the vacuolar p...

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Detalles Bibliográficos
Autores principales: Mitchell, Steven D., Albin, Roger L., Dauer, William T., Goudreau, John L., Sidiropoulos, Christos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Single Case − General Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255736/
https://www.ncbi.nlm.nih.gov/pubmed/34248567
http://dx.doi.org/10.1159/000515805

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255736/
https://www.ncbi.nlm.nih.gov/pubmed/34248567
http://dx.doi.org/10.1159/000515805

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