Associated Papers
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.
Llansó L et al.
Journal of Neuromuscular Diseases, 2025
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
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Tu WT et al.
Orphanet Journal of Rare Diseases, 2022
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L et al.
Acta Neuropathologica, 2013
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.
Natsuga K et al.
Human Mutation, 2010
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