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A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease
Author(s) -
Kumar Kishore R.,
Ng Karl,
Vandebona Himesha,
Davis Mark R.,
Sue Carolyn M.
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21610
Subject(s) - myotonia congenita , exon , myotonia , mutation , asymptomatic , phenotype , genetics , disease , medicine , gene , biology , pathology , myotonic dystrophy
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. Muscle Nerve, 2010