Myotonia congenita: novel mutations in CLCN1 gene

Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms. Here we have sequenced all 23 exons and...

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Bibliografiske detaljer
Udgivet i:Channels (Austin)
Main Authors: Liu, Xiao-Li, Huang, Xiao-Jun, Shen, Jun-Yi, Zhou, Hai-Yan, Luan, Xing-Hua, Wang, Tian, Chen, Sheng-Di, Wang, Ying, Tang, Hui-Dong, Cao, Li
Format: Artigo
Sprog:Inglês
Udgivet: Taylor & Francis 2015
Fag:
Research Paper
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4826137/
https://ncbi.nlm.nih.gov/pubmed/26260254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/19336950.2015.1075676
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