title: [Epidermolysis bullosa simplex with progressive muscular dystrophy due to plectin deficiency].
authors.forename: J
authors.initials: J
authors.lastname: Schuur
authors.forename: C J
authors.initials: CJ
authors.lastname: De Weerdt
mesh_terms: D003241:Consanguinity; D016110:Epidermolysis Bullosa Simplex / Q000150:complications / Q000235:genetics*; D015154:Esophageal Motility Disorders / Q000150:complications; D017809:Fatal Outcome; D006801:Humans; D007381:Intermediate Filament Proteins / Q000172:deficiency*; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics*; D009154:Mutation; D051190:Plectin; D011015:Pneumonia, Aspiration / Q000209:etiology; D013577:Syndrome
chemical_list: D007381:Intermediate Filament Proteins; C495332:PLEC protein, human; D051190:Plectin