AChR deficiency due to ε-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) ε-subunit gene underlying congenital myasthenic syndromes in nine patients (seven kinships) of Dutch origin. Previously reported mutations ε1369delG and εR311Q were found to be common; ε1369delG was present on at least one allele in seven of the nine patients, and εR311Q in six. Phenotypes ranged from relatively mild ptosis and external ophthalmoplegia to generalized myasthenia. T... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2009 |
Schlagwörter: | AChR mutations / AChR ε-subunit gene / Congenital myasthenic syndrome |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27217390 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://repub.eur.nl/pub/24182 |