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Muscle Nerve. 2010 Mar;41(3):412-5. doi: 10.1002/mus.21610.

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

Author information

1
Department of Neurology, Royal North Shore Hospital and University of Sydney, St. Leonards, New South Wales 2065, Australia.

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.

PMID:
20120005
DOI:
10.1002/mus.21610
[Indexed for MEDLINE]

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