Article
A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations.
Neuromuscular disorders : NMD - 1 Jun 1999
de Koning Gans P A, Ginjaar I, Bakker E, Yates J R, den Dunnen J T
Abstract excerpt
X-linked Emery-Dreifuss muscular dystrophy (EMD) is caused by mutations in the emerin gene. Since the emerin gene is ubiquitously expressed and since all EMD mutations published so far should be detectable by an RNA-based mutation assay, we have designed a protein truncation test for emerin. To facilitate the detection of mutations in the translation initiation site, reported for several EMD-cases, the standard...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.