Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea‐Acanthocytosis

Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea‐Acanthocytosis

ABSTRACT Background McLeod syndrome (MLS) and chorea‐acanthocytosis (ChAc) are exceedingly rare diseases characterized by a variety of movement disorders including chorea, dystonia, and Parkinsonism. Genetic analysis plays a key role in early and accurate diagnosis, but relevant variants are still u...

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Bibliographic Details
Main Authors: Hao Yu, Ling Li, Xiaoyan Li, Haipeng Liu
Format: Article
Language:English
Published: Wiley 2024-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
chorea‐acanthocytosis
McLeod syndrome
VPS13A
XK
Online Access:https://doi.org/10.1002/mgg3.70015

Internet

https://doi.org/10.1002/mgg3.70015

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