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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Bibliographic Details
Main Authors: Steven D. Mitchell, Roger L. Albin, William T. Dauer, John L. Goudreau, Christos Sidiropoulos
Format: Article
Language:English
Published: Karger Publishers 2021-06-01
Series:Case Reports in Neurology
Subjects:
Online Access:https://www.karger.com/Article/FullText/515805