Pelizaeus-Merzbacher-like disease in a family with variable phenotype and a novel splicing GJC2 mutation

Journal of Child Neurology

Volumn 28, Issue 11, 2013, Pages 1467-1473

  Al Yahyaee, Said Ali ^a   Al Kindi, Mohammed ^a   Jonghe, Peter De ^b,c,d   Al Asmi, Abdulah ^a   Al Futaisi, Amna ^a   Vriendt, Els De ^b   Deconinck, Tine ^b   Chand, Pratap ^a  

^a SULTAN QABOOS UNIVERSITY   (Oman)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

ataxia; gait disorder; gap junction protein; nystagmus; Pelizaeus Merzbacher

Indexed keywords

CARBAMAZEPINE; CONNEXIN 47; DNA; GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN 2; UNCLASSIFIED DRUG; VALPROIC ACID;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEMYELINATION; DISEASE SEVERITY; DNA DETERMINATION; ELECTROENCEPHALOGRAPHY; FEMALE; FRONTAL LOBE EPILEPSY; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEPLETION; RNA SPLICING; SCHOOL CHILD; SEIZURE;

EID: 84886444036     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812463610     Document Type: Article

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