Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia
- Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy
- Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants
- Identifying Plectin Isoform Functions through Animal Models
- New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy
- Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families
- Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion
- Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle
- The rod domain is not essential for the function of plectin in maintaining tissue integrity