Article
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.
Muscle & nerve - 1 Apr 2010
Shalata Adel, Furman Haya, Adir Vardit, Adir Noam, Hujeirat Yasir, Shalev Stavit A, Borochowitz Zvi U
Abstract excerpt
The aims of this study were to (1) characterize the clinical phenotype, (2) define the causative mutation, and (3) correlate the clinical phenotype with genotype in a large consanguineous Arab family with myotonia congenita. Twenty-four family members from three generations were interviewed and examined. Genomic DNA was extracted from peripheral blood samples for sequencing the exons of the CLCN1 gene. Twelve...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.