Myoclonus-dystonia syndrome: ε-Sarcoglycan mutations and phenotype

Annals of Neurology

Volumn 52, Issue 4, 2002, Pages 489-492

  Asmus, Friedrich ^a   Zimprich, Alexander ^a   Du Montcel, Sophie Tezenas ^b   Kabus, Christian ^c   Deuschl, Günther ^d   Kupsch, Andreas ^e   Ziemann, Ulf ^f   Castro, Mirna ^a   Kühn, Andrea A ^e   Strom, Tim M ^g   Vidailhet, Marie ^h   Bhatia, Kailash P ⁱ   Dürr, Alexandra ^b   Wood, Nicholas W ⁱ   Brice, Alexis ^b   Gasser, Thomas ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c MARTIN LUTHER KRANKENHAUS   (Germany)

^d UNIVERSITY OF KIEL   (Germany)

^e HUMBOLDT UNIVERSITY   (Germany)

^f GOETHE UNIVERSITY   (Germany)

^g TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^h HÔPITAL SAINT ANTOINE   (France)

ⁱ NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EPSILON SARCOGLYCAN; SARCOGLYCAN; UNCLASSIFIED DRUG;

ARM; ARTICLE; CERVICAL DYSTONIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DYSTONIA; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MYOCLONUS; NECK; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; FEMALE; GENOMIC IMPRINTING; GENOTYPE; HUMANS; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; MYOCLONUS; PENETRANCE; PHENOTYPE; SARCOGLYCANS; SEX FACTORS;

EID: 0036790909     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10325     Document Type: Article

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