| dc.contributor.author | J Gordon Millichap | |
| dc.contributor.other | Northwestern University Feinberg School of
Medicine | |
| dc.date.accessioned | 2016-09-29T14:32:42Z | |
| dc.date.available | 2025-10-02T04:57:40Z | |
| dc.date.issued | 01-01-1994 | |
| dc.identifier.issn | - | |
| dc.identifier.uri | https://www.pediatricneurologybriefs.com/articles/2850 | |
| dc.description.abstract | A new syndrome associated with a deficiency of acetylcholine receptor (AChR) and a short open-time of the AChR channel in a 5 year-old girl with myasthenic symptoms since birth is reported from the Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN. | |
| dc.format | - | |
| dc.language.iso | EN | |
| dc.publisher | Pediatric Neurology Briefs Publishers | |
| dc.relation.uri | ['https://jpro.springeropen.com/submission-guidelines', 'https://www.springernature.com/gp/open-research/policies/journal-policies/apc-waiver-countries', 'https://jpro.springeropen.com/about', 'https://jpro.springeropen.com/'] | |
| dc.rights | CC BY | |
| dc.subject | ['healthcare policy', 'patient-reported outcomes', 'quality of life', 'clinical trials', 'patient engagement', 'Public aspects of medicine', 'RA1-1270'] | |
| dc.subject.lcc | Pediatrics | |
| dc.title | Congenital Myasthenic Syndromes | |
| dc.type | Article | |
| dc.description.keywords | congenital myasthenic syndromes | |
| dc.description.keywords | laryngeal | |
| dc.description.keywords | pyridostigmine | |
| dc.description.pages | 8-8 | |
| dc.description.doi | 10.15844/pedneurbriefs-8-1-13 | |
| dc.title.journal | Pediatric Neurology Briefs | |
| dc.identifier.e-issn | 2166-6482 | |
| dc.identifier.oai | oai:doaj.org/journal:03a4ece03838409b919af4d7263857ab | |
| dc.journal.info | Volume 8, Issue 1 | |