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
Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion.
Zrelski MM et al.
The Journal of Investigative Dermatology, 2024
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Vahidnezhad H et al.
Human Mutation, 2022
Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex.
Natsuga K et al.
Human Mutation, 2017
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.
Kyrova J et al.
Journal of Dermatological Case Reports, 2016
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L et al.
Acta Neuropathologica, 2013
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