Condition: Dyskinesia, Familial, with Facial Myokymia
rs796065306
in
ADCY5
gene and
Dyskinesia, Familial, with Facial Myokymia
PMID 24700542
2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
PMID 11310626
2001 Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.
PMID 22782511
2012 Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
PMID 25545163
2015 A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
PMID 26537056
2015 ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.