COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health
Reference20 articles.
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2. Update on the genetics of dystonia;Lohmann;Curr Neurol Neurosci Rep,2017
3. TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia;Zech;Mov Disord,2015
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5. The genetics of dystonia: new twists in an old tale;Charlesworth;Brain,2013
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1. Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia;Heliyon;2024-06
2. A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia;Frontiers in Neurology;2023-04-04
3. A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report;Frontiers in Neurology;2023-01-27
4. Dystonia;Movement Disorders in Childhood;2022
5. Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients;Journal of Neurosciences in Rural Practice;2021-09-20
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