AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands
Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary disorders affecting neuromuscular transmission. We have identified mutations within the acetylcholine receptor (AChR) epsilon-subunit gene underlying congenital myasthenic syndromes in nine patients (seven kinships) of Dutch origin. Previously reported mutations epsilon 1369delG and epsilon R311Q were found to be common; epsilon 1369delG was present on at least one allele in seven of the nine patients, and epsilon R311Q in six. Phenotypes ranged from relatively mild ptosis and external ophthalmop... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2009 |
Reihe/Periodikum: | Faber , CG , Molenaar , PC , Vles , JSH , Bonifati , DM , Verschuuren , JJGM , van Doorn , P , Kuks , JBM , Wokke , JHJ , Beeson , D & De Baets , M 2009 , ' AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands ' , Journal of Neurology , vol. 256 , no. 10 , pp. 1719-1723 . https://doi.org/10.1007/s00415-009-5190-7 |
Schlagwörter: | /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402 / name=EMC MM-04-44-02 |
Sprache: | unknown |
Permalink: | https://search.fid-benelux.de/Record/base-26839870 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://pure.eur.nl/en/publications/1f4c3444-afab-4f58-8667-f6ad2b007a23 |