Heterozygous YY1 mutation - A mimicker of SGCE-myoclonus-dystonia

Parkinsonism Relat Disord. 2023 Dec:117:105846. doi: 10.1016/j.parkreldis.2023.105846. Epub 2023 Sep 9.

Authors

Tanushree Chawla¹, Natasha K Kumar², Vinay Goyal³

Affiliations

¹ Department of Neurology, Institute of Neurosciences, Medanta, The Medicity, Gurugram, Haryana, India.
² Consultant Clinical Neuropsychologist, Institute of Neurosciences, Medanta, The Medicity, Gurugram, Haryana, India.
³ Department of Neurology, Institute of Neurosciences, Medanta, The Medicity, Gurugram, Haryana, India. Electronic address: drvinaygoyal@gmail.com.

PMID: 37690905
DOI: 10.1016/j.parkreldis.2023.105846

No abstract available

Keywords: Dystonia; Gabriele de vries syndrome; Writers cramp; YY1 mutation.

MeSH terms

Dystonic Disorders* / diagnosis
Dystonic Disorders* / genetics
Heterozygote
Humans
Mutation / genetics
Myoclonus* / genetics
Sarcoglycans / genetics
YY1 Transcription Factor / genetics

Substances

Sarcoglycans
YY1 protein, human
YY1 Transcription Factor
SGCE protein, human

Supplementary concepts

Myoclonic dystonia