COLQ-mutant congenital myasthenic syndrome with microcephaly: A unique case with literature review
Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically n...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
De Gruyter
2017-07-01
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| Series: | Translational Neuroscience |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/tnsci-2017-0011 |