Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families

Movement Disorders

Volumn 30, Issue 5, 2015, Pages 743-744

  Ma, Ling Yan ^a,b   Wang, Lin ^b   Yang, Ying Mai ^b   Feng, Tao ^a   Wan, Xin Hua ^b  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ANO3 GENE; BLEPHAROSPASM; CHINESE; DYSTONIA; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GNAL GENE; HUMAN; LETTER; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TORTICOLLIS; TREMOR; ASIAN CONTINENTAL ANCESTRY GROUP; FAMILY HEALTH; FEMALE; GENETICS; MALE; MUTATION; NUCLEOTIDE SEQUENCE;

ANOCTAMIN 3, HUMAN; CHLORIDE CHANNEL; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; OLFACTORY G PROTEIN SUBUNIT ALPHA OLF;

ASIAN CONTINENTAL ANCESTRY GROUP; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; DYSTONIA; FAMILY HEALTH; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS; HUMANS; MALE; MUTATION;

EID: 84928651146     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26190     Document Type: Letter

References (5)

1. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28:863-873.
2. Charlesworth G, Plagnol V, Holmstrom KM, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 2012;91:1041-1050.
3. Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet 2013;45:88-92.
4. Kumar KR, Lohmann K, Masuho I, et al. Mutations in GNAL: a novel cause of craniocervical dystonia. JAMA Neurol 2014;71:490-494.
5. Zech M, Gross N, Jochim A, et al. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls. Mov Disord 2014;29:143-147.