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...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Pediatric Neurology Briefs Publishers
2000-09-01
|
| Series: | Pediatric Neurology Briefs |
| Subjects: | |
| Online Access: | https://www.pediatricneurologybriefs.com/articles/1910 |
| id |
doaj-7be1704fa0cf4cf896cb635d04bfa65c |
|---|---|
| record_format |
Article |
| spelling |
doaj-7be1704fa0cf4cf896cb635d04bfa65c2020-11-25T03:09:21ZengPediatric 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 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
J Gordon Millichap |
| spellingShingle |
J Gordon Millichap Congenital Myasthenic Syndrome and AChR Mutation Pediatric Neurology Briefs congenital myasthenic syndrome e-achr subunit mutations ophthalmoplegia |
| author_facet |
J Gordon Millichap |
| author_sort |
J Gordon Millichap |
| title |
Congenital Myasthenic Syndrome and AChR Mutation |
| title_short |
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_sort |
congenital myasthenic syndrome and achr mutation |
| publisher |
Pediatric Neurology Briefs Publishers |
| series |
Pediatric Neurology Briefs |
| issn |
1043-3155 2166-6482 |
| publishDate |
2000-09-01 |
| 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. |
| topic |
congenital myasthenic syndrome e-achr subunit mutations ophthalmoplegia |
| url |
https://www.pediatricneurologybriefs.com/articles/1910 |
| work_keys_str_mv |
AT jgordonmillichap congenitalmyasthenicsyndromeandachrmutation |
| _version_ |
1724663111468711936 |