AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands
AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands
About this item
Full title
Author / Creator
Publisher
Heidelberg: D. Steinkopff-Verlag
Journal title
Language
English
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Publication information
Publisher
Heidelberg: D. Steinkopff-Verlag
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More information
Scope and Contents
Contents
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 muta...
Alternative Titles
Full title
AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2758211
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2758211
Other Identifiers
ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-009-5190-7
