Associated Papers
Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed-Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype-Phenotype Correlation in Nine Cases.
Yang MC et al.
The Journal of Dermatology, 2025
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L et al.
Acta Neuropathologica, 2013
Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
Yiu EM et al.
Muscle & Nerve, 2011
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
Natsuga K et al.
Human Mutation, 2010
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