Congenital Myasthenic Syndrome and AChR Mutation
A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted from 2 years of age and evaluated at the University of Bonn, Germany, was found to have congenital myasthenic syndrome (CMS) due to homozygosity of the 1293insG e-acetylcholine receptor subunit mutati...
| Published in: | Pediatric Neurology Briefs |
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| Main Author: | |
| Format: | Article |
| Language: | English |
| Published: |
Pediatric Neurology Briefs Publishers
2000-09-01
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| Subjects: | |
| Online Access: | https://www.pediatricneurologybriefs.com/articles/1910 |
| _version_ | 1850307326455578624 |
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| author | J Gordon Millichap |
| author_facet | J Gordon Millichap |
| author_sort | J Gordon Millichap |
| collection | DOAJ |
| container_title | Pediatric Neurology Briefs |
| description | A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted from 2 years of age and evaluated at the University of Bonn, Germany, was found to have congenital myasthenic syndrome (CMS) due to homozygosity of the 1293insG e-acetylcholine receptor subunit mutation. |
| format | Article |
| id | doaj-art-7be1704fa0cf4cf896cb635d04bfa65c |
| institution | Directory of Open Access Journals |
| issn | 1043-3155 2166-6482 |
| language | English |
| publishDate | 2000-09-01 |
| publisher | Pediatric Neurology Briefs Publishers |
| record_format | Article |
| spelling | doaj-art-7be1704fa0cf4cf896cb635d04bfa65c2025-08-19T23:28:43ZengPediatric Neurology Briefs PublishersPediatric Neurology Briefs1043-31552166-64822000-09-01149707010.15844/pedneurbriefs-14-9-101897Congenital Myasthenic Syndrome and AChR MutationJ Gordon Millichap0Northwestern University Feinberg School of MedicineA 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted from 2 years of age and evaluated at the University of Bonn, Germany, was found to have congenital myasthenic syndrome (CMS) due to homozygosity of the 1293insG e-acetylcholine receptor subunit mutation.https://www.pediatricneurologybriefs.com/articles/1910congenital myasthenic syndromee-achr subunit mutationsophthalmoplegia |
| spellingShingle | J Gordon Millichap Congenital Myasthenic Syndrome and AChR Mutation congenital myasthenic syndrome e-achr subunit mutations ophthalmoplegia |
| title | Congenital Myasthenic Syndrome and AChR Mutation |
| title_full | Congenital Myasthenic Syndrome and AChR Mutation |
| title_fullStr | Congenital Myasthenic Syndrome and AChR Mutation |
| title_full_unstemmed | Congenital Myasthenic Syndrome and AChR Mutation |
| title_short | Congenital Myasthenic Syndrome and AChR Mutation |
| title_sort | congenital myasthenic syndrome and achr mutation |
| topic | congenital myasthenic syndrome e-achr subunit mutations ophthalmoplegia |
| url | https://www.pediatricneurologybriefs.com/articles/1910 |
| work_keys_str_mv | AT jgordonmillichap congenitalmyasthenicsyndromeandachrmutation |