Ontology highlight
ABSTRACT:
SUBMITTER: Bauer JW
PROVIDER: S-EPMC1850321 | biostudies-literature | 2001 Feb
REPOSITORIES: biostudies-literature
Bauer J W JW Rouan F F Kofler B B Rezniczek G A GA Kornacker I I Muss W W Hametner R R Klausegger A A Huber A A Pohla-Gubo G G Wiche G G Uitto J J Hintner H H
The American journal of pathology 20010201 2
Plectin is a cytoskeleton linker protein expressed in a variety of tissues including skin, muscle, and nerves. Mutations in its gene are associated with epidermolysis bullosa simplex with late-onset muscular dystrophy. Whereas in most of these patients the pathogenic events are mediated by nonsense-mediated mRNA decay, the consequences of an in-frame mutation are less clear. We analyzed a patient with compound heterozygosity for a 3-bp insertion at position 1287 leading to the insertion of leuci ...[more]