A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia

Movement Disorders

Volumn 30, Issue 3, 2015, Pages 423-427

  Carapito, Raphael ^a   Paul, Nicodème ^a   Untrau, Meiggie ^a   Le Gentil, Marion ^a   Ott, Louise ^a   Alsaleh, Ghada ^a   Jochem, Pierre ^a   Radosavljevic, Mirjana ^a   Le Caignec, Cédric ^b   David, Albert ^b   Damier, Philippe ^b   Isidor, Bertrand ^b,c   Bahram, Seiamak ^a  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b NANTES UNIVERSITY HOSPITAL   (France)

^c INSERM   (France)

Author keywords

ADCY5; Chorea associated with dystonia; Exome

Indexed keywords

ADENYLATE CYCLASE 5; LYASE; UNCLASSIFIED DRUG; ADENYLATE CYCLASE; ADENYLYL CYCLASE TYPE V;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHOREA; DYSTONIA; EXOME; GENE EXPRESSION; GENE MUTATION; HAPLOINSUFFICIENCY; HUMAN; INDEL MUTATION; MALE; MUSCLE HYPOTONIA; MYOKYMIA; NEUROLOGIC EXAMINATION; PHYSIOTHERAPY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; STEREOTYPY; TENDON REFLEX; DYSTONIC DISORDER; FAMILY HEALTH; FEMALE; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE;

ADENYLYL CYCLASES; ADOLESCENT; ADULT; CHOREA; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTATION;

EID: 84924532690     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26115     Document Type: Article

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