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