PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.
Bolling
Maria C
MC
Pas
Hendri H
HH
de Visser
Marianne
M
Aronica
Eleonora
E
Pfendner
Ellen G
EG
van den Berg
Maarten P
MP
Diercks
Gilles F H
GF
Suurmeijer
Albert J H
AJ
Jonkman
Marcel F
MF
D000328:Adult; D017668:Age of Onset; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000235:genetics*; D016110:Epidermolysis Bullosa Simplex / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics*; D051190:Plectin / Q000737:chemistry / Q000235:genetics*; D017434:Protein Structure, Tertiary
C495332:PLEC protein, human; D051190:Plectin