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A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity.

作者信息

Kim Taewoo, Ha Su Hyeon, Yoo Dallah, Park Kyung Sun, Ahn Tae-Beom

机构信息

Department of Neurology, Kyung Hee University Hospital, Kyung Hee University College of Medicine, Seoul, Korea.

Department of Laboratory Medicine, Kyung Hee University Hospital, Kyung Hee University College of Medicine, Seoul, Korea.

出版信息

J Mov Disord. 2023 Sep;16(3):339-342. doi: 10.14802/jmd.23085. Epub 2023 Jul 24.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4263/10548081/f9a17f89f85c/jmd-23085f1.jpg

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本文引用的文献

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21.
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Prolonged Episodic Dystonia in Tyrosine Hydroxylase Deficiency Due to Homozygous c.698G>A (p.Arg233His) Mutation-A Diagnostic Challenge.
Mov Disord Clin Pract. 2022 Aug 10;9(8):1136-1139. doi: 10.1002/mdc3.13522. eCollection 2022 Nov.
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Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Mov Disord. 2022 Feb;37(2):237-252. doi: 10.1002/mds.28874. Epub 2021 Dec 15.
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Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients.
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Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment.
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Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs.
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Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
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