De Novo Missense Mutation of VPS16 in a Chinese Patient with Generalized Dystonia with Myoclonus

Early View

LETTERS: GENOTYPE AND PHENOTYPE

Xiaojing Gu MD,

Xiaojing Gu MD

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Disease Center, West China Hospital, Sichuan University, Chengdu, China

Search for more papers by this authorJunyu Lin MD,

Junyu Lin MD

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Disease Center, West China Hospital, Sichuan University, Chengdu, China

Search for more papers by this authorYanbing Hou MD,

Yanbing Hou MD

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Disease Center, West China Hospital, Sichuan University, Chengdu, China

Search for more papers by this authorLingyu Zhang MD,

Lingyu Zhang MD

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Disease Center, West China Hospital, Sichuan University, Chengdu, China

Search for more papers by this authorHuifang Shang MD,

Corresponding Author

Huifang Shang MD

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Disease Center, West China Hospital, Sichuan University, Chengdu, China

Correspondence to: Dr. Huifang Shang, Department of Neurology, Rare Disease Center, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041, China; E-mail: hfshang2002@163.com

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Table S1. Demographic features of the studied participants.

Table S2. Description of the psychiatric and cognitive assessments of the patient.

Table S3. Description of the variant in VPS16 identified in the patient.

Table S4. Summary for the published studies about VPS16S in dystonia.

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