Dosage effect of a dominant CLCN1 mutation: A novel syndrome

Journal of Child Neurology

Volumn 23, Issue 2, 2008, Pages 163-166

  Bernard, Geneviéve ^a   Poulin, Chantal ^a   Puymirat, Jack ^b   Sternberg, Damien ^c   Shevell, Michael ^a,d  

^a MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b LAVAL UNIVERSITY   (Canada)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d MONTREAL CHILDREN S HOSPITAL   (Canada)

Author keywords

Channelopathy; CLCN1; Myotonia congenita

Indexed keywords

CHLORIDE CHANNEL; GENOMIC DNA; UNCLASSIFIED DRUG; VOLTAGE GATED CHLORIDE CHANNEL CLCN1;

ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE DURATION; DISEASE SEVERITY; DOMINANT INHERITANCE; ELECTROMYOGRAM; GAIT DISORDER; GENE MUTATION; HUMAN; MALE; MUSCLE CRAMP; MUSCLE HYPERTROPHY; MYOTONIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; ELECTROMYOGRAPHY; GENE DOSAGE; GENES, DOMINANT; HAND STRENGTH; HUMANS; HYPERTROPHY; MALE; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MYOTONIA CONGENITA; PEDIGREE; SYNDROME;

EID: 38349129948     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807307974     Document Type: Article

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