Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype

Brain

Volumn 130, Issue 10, 2007, Pages 2736-2745

  Asmus, Friedrich ^a   Hjermind, Lena Elisabeth ^b   Dupont, Erik ^c   Wagenstaller, Janine ^d,e   Haberlandt, Edda ^f   Munz, Marita ^a   Strom, Tim M ^d,e   Gasser, Thomas ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^f UNIVERSITY HOSPITAL INNSBRUCK   (Austria)

Author keywords

7q21 deletion; Cavernous cerebral malformations; KRIT1; Myoclonus dystonia; SCGE

Indexed keywords

COL1A2 PROTEIN; KRIT1 PROTEIN; PROTEIN; SARCOGLYCAN; SGCE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; BRAIN MALFORMATION; CHILD; CHROMOSOME 21; CHROMOSOME 7Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DNA MICROARRAY; DYSTONIA; FEMALE; FOOT MALFORMATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE NUMBER; GENETIC COUNSELING; HAND MALFORMATION; HAPLOIDY; HEARING LOSS; HUMAN; HYPODONTIA; MALE; MUTATIONAL ANALYSIS; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIATRICS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SUBLUXATION;

EID: 34848872531     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm209     Document Type: Article

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