No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia

Movement Disorders

Volumn 29, Issue 1, 2014, Pages 154-155

  Charlesworth, Gavin ^a   Bhatia, Kailash P ^a   Wood, Nicholas W ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CERVICAL DYSTONIA; EXON; FAMILIAL DISEASE; FAMILY HISTORY; GENE; GENE MUTATION; GENETIC SCREENING; GNAL GENE; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; SECOND DEGREE RELATIVE; SEGMENTAL DYSTONIA; SEGREGATION ANALYSIS;

FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS; HUMANS; MALE; MUTATION; PEDIGREE; TORTICOLLIS;

EID: 84892934436     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25713     Document Type: Article

References (2)

1. Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nature Genetics 2012;45:88-92.
2. Vemula SR, Puschmann A, Xiao J, et al. Role of Galpha(olf) in familial and sporadic adult-onset primary dystonia. Hum Mol Genet 2013;22:2510-2519.