Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease

Molecular Genetics and Metabolism

Volumn 104, Issue 4, 2011, Pages 637-643

  Meyer, E ^a   Kurian, M A ^a,b   Morgan, N V ^a   McNeill, A ^a   Pasha, S ^a   Tee, L ^a   Younis, R ^a   Norman, A ^c   van der Knaap, M S ^d   Wassmer, E ^b   Trembath, R C ^e   Brueton, L ^c   Maher, E R ^a,c  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Neurogenetics

Indexed keywords

ALANINE; GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN 2 GAMMA; GLYCINE; TRANSCRIPTION FACTOR SOX10; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; CASE REPORT; CEREBRAL HYPOMYELINATION; CHILD; CHROMOSOME 1Q; CHROMOSOME 1Q42.13; CHROMOSOME 1Q42.2; CLINICAL FEATURE; CONTROLLED STUDY; DEMYELINATING DISEASE; DIAGNOSTIC TEST; DYSARTHRIA; EXON; FAMILY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; INFANT; LEG SPASTICITY; MALE; MICROARRAY ANALYSIS; MICROSATELLITE MARKER; MOLECULAR GENETICS; MUSCLE SPASM; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PAKISTAN; PELIZAEUS MERZBACHER DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; SINGLE NUCLEOTIDE POLYMORPHISM; ZYGOSITY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONNEXINS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; NEUROIMAGING; PAKISTAN; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; POINT MUTATION; PROMOTER REGIONS, GENETIC; YOUNG ADULT;

EID: 82255175854     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.08.032     Document Type: Article

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