Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome

Nature Genetics

Volumn 29, Issue 1, 2001, Pages 66-69

  Zimprich, Alexander ^a   Grabowski, Monika ^b,c   Asmus, Friedrich ^a   Naumann, Markus ^d   Berg, Daniela ^d   Bertram, Markus ^e   Scheidtmann, Karl ^f   Kern, Peter ^g   Winkelmann, Juliane ^h   Müller Myhsok, Bertram ^i,j   Riedel, Leonhard ^a   Bauer, Matthias ^a   Müller, Tanja ^a   Castro, Mirna ^a   Mitinger, Thomas ^b,c   Strom, Tim M ^b,c   Gasser, Thomas ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d UNIVERSITY OF WÜRZBURG   (Germany)

^e UNIVERSITY OF HEIDELBERG   (Germany)

^f Neurological Hospital   (Germany)

^g HELIOS KLINIKUM BERLIN BUCH   (Germany)

^h Institute of Psychiatry   (Germany)

ⁱ BERNHARD NOCHT INSTITUTE FOR TROPICAL MEDICINE   (Germany)

^j Axaron Bioscience AG   (Germany)

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Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE; EPSILON SARCOGLYCAN; GENE PRODUCT; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; PROTEIN GCH1; SARCOGLYCAN; TYROSINE 3 MONOOXYGENASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CHROMOSOME 7Q; CLINICAL ARTICLE; CLINICAL FEATURE; DYSTONIA; FEMALE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC CODE; HETEROZYGOSITY LOSS; HUMAN; MALE; MENTAL DISEASE; MOLECULAR CLONING; MUSCLE CRAMP; MYOCLONUS; NUCLEOTIDE SEQUENCE; OBSESSION; ONSET AGE; PANIC; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SYNDROME; TORTICOLLIS;

ADOLESCENT; BLOTTING, NORTHERN; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DYSTONIC DISORDERS; FEMALE; HUMANS; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; MYOCLONUS; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SARCOGLYCANS; SYNDROME; TUMOR CELLS, CULTURED;

EID: 17944378309     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng709     Document Type: Article

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