Article
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.
Human molecular genetics - 1 May 1998
Manilal S, Recan D, Sewry C A, Hoeltzenbein M, Llense S, Leturcq F, Deburgrave N, Barbot J, Man N, Muntoni F, Wehnert M, Kaplan J, Morris G E
Abstract excerpt
Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by emerin protein expression. Fourteen had mutations in the X-linked emerin gene, while three showed evidence of autosomal inheritance. Twelve of the 14 emerin mutations caused early termination of translation. An in-frame deletion of six amino acids from the C-terminal transmembrane helix caused almost...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.