Article
CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.
Medicine - 1 Apr 2018
Yang Kunfang, Cheng Hongyi, Yuan Fang, Meng Linyi, Yin Rongrong, Zhang Yuanfeng, Wang Simei, Wang Chunmei, Lu Yanfen, Xi Jiaming, Lu Qin, Chen Yucai
Abstract excerpt
RATIONALE: Congenital myasthenic syndrome (CMSs) are a group of rare genetic disorders of the neurological junction, which can result in structural or functional weakness. Here, we characterized a case of CMS in order to clarify the diagnosis and expand the understanding of it. The molecular diagnosis had implications for choice of treatment and genetic counseling. PATIENT CONCERNS: A 3-year-old male patient with...
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