Heterozygous pathogenic variation in GCH1 associated with treatable severe spastic tetraplegia
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference5 articles.
1. GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia;Fan;J. Neurol.,2014
2. GCH1 mutations in hereditary spastic paraplegia;Varghaei;Clin. Genet.,2021
3. Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset;Wassenberg;Park. Relat. Disord.,2020
4. A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population;Hu;Eur. J. Neurol.,2011
5. GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness;Robinson;J. Neurol. Neurosurg. Psychiatry,1999
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