A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease
| Autor: | Carolyn M. Sue, Himesha Vandebona, Kishore R. Kumar, Karl Ng, Mark R. Davis |
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| Rok vydání: | 2010 |
| Předmět: |
musculoskeletal diseases
Genetics congenital hereditary and neonatal diseases and abnormalities CLCN1 biology Physiology Myotonia congenita business.industry Myotonia medicine.disease Phenotype Asymptomatic Cellular and Molecular Neuroscience Exon Physiology (medical) Mutation (genetic algorithm) Chloride channel medicine biology.protein Neurology (clinical) medicine.symptom business |
| Zdroj: | Muscle & Nerve. 41:412-415 |
| ISSN: | 0148-639X |
| DOI: | 10.1002/mus.21610 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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