CHRNE compound heterozygous mutations in congenital myasthenic syndrome
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DOI: 10.1097/md.0000000000010347
Abstract: 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… read more here.
Keywords: diagnosis; congenital myasthenic; myasthenic syndrome; cms ... See more keywords