Lamin A and lamin C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder characterised by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and cardiomyopathy associated with cardiac conduction defect. The autosomal dominant form is caused by mutations in the...
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| Format: | Doctoral Thesis |
| Language: | English |
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2005
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| Online Access: | https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/1315 http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-15360 https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-15360 https://opus.bibliothek.uni-wuerzburg.de/files/1315/Dissertation_Isabell_Motsch.pdf |