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
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Vahidnezhad H et al.
Human Mutation, 2022
Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex.
Tu WT et al.
Acta Dermato-venereologica, 2020
A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.
Argyropoulou Z et al.
Bmc Dermatology, 2018
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.
Kyrova J et al.
Journal of Dermatological Case Reports, 2016
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
Charlesworth A et al.
The British Journal of Dermatology, 2013
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L et al.
Acta Neuropathologica, 2013
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