The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

European Journal of Human Genetics

Volumn 11, Issue 2, 2003, Pages 138-144

  Grabowski, Monika ^a   Zimprich, Alexander ^c   Lorenz Depiereux, Bettina ^a   Kalscheuer, Vera ^d   Asmus, Friedrich ^c   Gasser, Thomas ^c   Meitinger, Thomas ^a,b   Strom, Tim M ^a,b  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Differential methylation; Epsilon sarcoglycan; Imprinting; Myoclonus dystonia syndrome

Indexed keywords

BISULFITE; COMPLEMENTARY DNA; DINUCLEOTIDE; GENE PRODUCT; SARCOGLYCAN;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN TISSUE; CLINICAL ARTICLE; CONTROLLED STUDY; CPG ISLAND; DYSTONIA; EXON; FAMILY; FATHER; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENOME IMPRINTING; HUMAN; HUMAN TISSUE; LEUKOCYTE; LYMPHOBLASTOID CELL LINE; MALE; METHYLATION; MOTHER; MYOCLONUS; NEUROLOGIC DISEASE; PARENT; PEDIGREE ANALYSIS; PENETRANCE; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; UNIPARENTAL DISOMY; WILD TYPE;

5-METHYLCYTOSINE; CPG ISLANDS; CYTOSINE; CYTOSKELETAL PROTEINS; DYSTONIC DISORDERS; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MYOCLONUS; PEDIGREE; SARCOGLYCANS; SEQUENCE ANALYSIS, DNA;

EID: 0037301222     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200938     Document Type: Article

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