Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review
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- 作者：Xinghua Luan1 ; Wotu Tian1 ; Li Cao ; caoli2000@yeah.net" class="auth_mail" title="E-mail the corresponding author
- 关键词：Congenital myasthenic syndrome ; Neuromuscular transmission ; MUSK gene ; Limb-girdle CMS ; Missense mutations
- 刊名：Clinical Neurology and Neurosurgery
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：150
- 期：Complete
- 页码：41-45
- 全文大小：806 K
文摘
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We find two novel missense mutations in MUSK gene.
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We report the first Chinese MUSK-related LG-CMS patient.
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We review 15 MUSK-related CMS patients from 8 countries.