A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-y...
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| Format: | Artigo |
| Sprache: | Inglês |
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Shiraz University of Medical Sciences
2016-09-01
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| Schriftenreihe: | Iranian Journal of Medical Sciences |
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| Online-Zugang: | http://ijms.sums.ac.ir/index.php/IJMS/article/view/1282 |
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