REEP4 variant analysis in blepharospasm and other neurological disorders

Introduction: In preceding work, a deleterious REEP4 variant [GRCh38/hg38, NC_000008.11:g.22140245G>A, NM_025232.4:c.109C>T, p.Arg37Trp] was found to co-segregate with blepharospasm (BSP) in a large African-American pedigree. Other REEP4 variants have been reported in genetic screening...

Full description

Bibliographic Details

Published in:	Dystonia
Main Authors:	Samira Saeirad, Mark S. LeDoux
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-02-01
Subjects:	blepharospasm REEP4 Sanger sequencing genetic variant dystonia
Online Access:	https://www.frontierspartnerships.org/articles/10.3389/dyst.2024.12016/full