Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.

Gache, Yannick; Chavanas, Stéphane; Lacour, J.‐P.; Wiche, Gerhard; Owaribe, K; Meneguzzi, Guerrino; Ortonne, J.‐P.

doi:10.1172/jci118671

Public

Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.

Published in Journal of Clinical Investigation • May 15, 1996

Authors:

Yannick Gache

Stéphane Chavanas

J.‐P. Lacour

Abstract

Epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) is a disease characterized by generalized blistering of the skin associated with muscular involvement. We report that the skin of three MD-EBS patients is not reactive with antibodies 6C6, 10F6, or 5B3 raised against the intermediate fil...

Subject

Plectin

Epidermolysis bullosa simplex

Intermediate filament

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