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Muscle-Related Plectinopathies.
Zrelski MM, Kustermann M, Winter L. Zrelski MM, et al. Cells. 2021 Sep 19;10(9):2480. doi: 10.3390/cells10092480. Cells. 2021. PMID: 34572129 Free PMC article. Review.
Mutations in the human plectin gene (PLEC) cause several rare diseases that are grouped under the term plectinopathies. The most common disorder is autosomal recessive disease epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), which is characteri …
Mutations in the human plectin gene (PLEC) cause several rare diseases that are grouped under the term plectinopathies. The most common diso …
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L, Wiche G. Winter L, et al. Acta Neuropathol. 2013 Jan;125(1):77-93. doi: 10.1007/s00401-012-1026-0. Epub 2012 Aug 3. Acta Neuropathol. 2013. PMID: 22864774 Review.
Mutations in the human plectin gene result in multiple diseases manifesting with muscular dystrophy, skin blistering, and signs of neuropathy. The most common disease caused by plectin deficiency is epidermolysis bullosa simplex (EBS)-MD, a rare autosomal-rec …
Mutations in the human plectin gene result in multiple diseases manifesting with muscular dystrophy, skin blistering, and signs of neuropath …
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.
Pfendner E, Rouan F, Uitto J. Pfendner E, et al. Exp Dermatol. 2005 Apr;14(4):241-9. doi: 10.1111/j.0906-6705.2005.00324.x. Exp Dermatol. 2005. PMID: 15810881 Review.
Mutations in the plectin gene (PLEC1) result in fragility of skin, demonstrating blister formation at the level of hemidesmosomes. These blistering disorders belong to the spectrum of epidermolysis bullosa (EB) phenotypes, and three distinct variants because of plec …
Mutations in the plectin gene (PLEC1) result in fragility of skin, demonstrating blister formation at the level of hemidesmosomes. These bli …