Condition: Juvenile-onset dystonia
rs104894003 in
ACTB gene and
Juvenile-onset dystonia
PMID 12325076 2002 Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia.
PMID 16685646 2006 A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.