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Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing
Paramyotonia congenita (PC) is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A) g...
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| 發表在: | Genom Data |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Elsevier
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4535863/ https://ncbi.nlm.nih.gov/pubmed/26484179 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gdata.2015.03.002 |
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