Mutations in the ε-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families

Neurology

Volumn 61, Issue 2, 2003, Pages 244-246

  Han, F ^b   Lang, A E ^b   Racacho, L ^b   Bulman, D E ^a   Grimes, D A ^a  

^a UNIVERSITY OF OTTAWA   (Canada)

^b Civic Campus ^*

Author keywords

[No Author keywords available]

Indexed keywords

SARCOGLYCAN; CYTOSKELETON PROTEIN; MEMBRANE PROTEIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DYSTONIA; EXON; FAMILIAL DISEASE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HUMAN; MYOCLONUS; NONSENSE MUTATION; PRIORITY JOURNAL; ADOLESCENT; ADULT; CHILD; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETICS; INFANT; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; HUMANS; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MYOCLONUS; PHENOTYPE; SARCOGLYCANS; SEQUENCE DELETION;

EID: 0038796296     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000073142.40185.C1     Document Type: Article

References (10)

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