Isolated generalized dystonia in biallelic missense mutations of the ATM gene

Movement Disorders

Volumn 28, Issue 13, 2013, Pages 1897-1899

  Meissner, Wassilios G ^a,b,c   Fernet, Marie ^d,e   Couturier, Jérôme ^d,e   Hall, Janet ^d,e   Laugé, Anthony ^e   Henry, Patrick ^a   Stoppa Lyonnet, Dominique ^e,f   Tison, François ^a,b,c  

^a BORDEAUX UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE BORDEAUX   (France)

^c CNRS   (France)

^d INSERM   (France)

^e INSTITUT CURIE   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; ARGININE; ATM PROTEIN; CYSTINE; CYTIDINE; NIBRIN; THYMIDINE;

ALPHA FETOPROTEIN BLOOD LEVEL; BREAST CANCER; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL FEATURE; CODON; DISEASE COURSE; EARLY CANCER; ENZYME ACTIVITY; EXON; EYE EXAMINATION; FOLLOW UP; GENERALIZED DYSTONIA; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INFERTILITY; KARYOTYPING; LETTER; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PTERYGIUM; SIBLING; TREMOR;

ATAXIA TELANGIECTASIA MUTATED PROTEINS; DYSTONIA; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTATION, MISSENSE;

EID: 84887621912     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25487     Document Type: Letter

References (8)

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