Channelpedia

PubMed 20120005


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: ClvC1 , ClvC4



Title: A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

Authors: Kishore R Kumar, Karl Ng, Himesha Vandebona, Mark R Davis, Carolyn M Sue

Journal, date & volume: Muscle Nerve, 2010 Mar , 41, 412-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/20120005


Abstract
We investigated a 62-year-old man who had mild clinical features of myotonia congenita. He was found to have a novel heterozygous G-to-A nucleotide substitution at position 1652 in exon 15 of the CLCN1 gene. Clinicogenetic studies performed on his family revealed that his asymptomatic son also shared the mutation. We conclude that a novel chloride channel mutation (G1652A) has caused a mild form of autosomal-dominant myotonia congenita (Thomsen disease) in this family.