Article
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
Journal of neuropathology and experimental neurology - 1 Jun 2002
Schröder Rolf, Kunz Wolfram S, Rouan Fatima, Pfendner Ellen, Tolksdorf Karen, Kappes-Horn Karin, Altenschmidt-Mehring Manuela, Knoblich Rupert, van der Ven Peter F M, Reimann Jens, Fürst Dieter O, Blümcke Ingmar, Vielhaber Stefan, Zillikens Detlef, Eming Sabine, Klockgether Thomas, Uitto Jouni, Wiche Gerhard, Rolfs Arndt
Abstract excerpt
Mutations of the human plectin gene (Plec1) cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). Here, we report on molecular mechanisms leading to severe dystrophic muscle alterations in EBS-MD. Analysis of a 25-yr-old EBS-MD patient carrying a novel homozygous 16-bp insertion mutation (13803ins16/13803ins16) close to the intermediate filament (IF) binding site of plectin...
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