[Epidermolysis bullosa simplex with progressive muscular dystrophy due to plectin deficiency].
Schuur
J
J
De Weerdt
C J
CJ
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
D007381:Intermediate Filament Proteins; C495332:PLEC protein, human; D051190:Plectin