P.252LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

Plectin is a giant multifunctional cytolinker protein (500 kDa) expressed in several tissues with essential roles in striated and smooth muscles, epithelia and nerve. It is a component of hemidesmosomes, desmosomes and focal adhesion contacts where it interacts with actin and intermediate filaments. Pathogenic variants in the PLEC1 gene lead to a group of diseases including epidermolysis bullosa (simplex ogna with or without muscular dystrophy, myasthenic syndrome, or pyloric atresia) and isolated limb-girdle muscular dystrophy.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: R. Ben Yaou, T. Stojkovic, M. Cerino, F. Duval, R. Juntas-Morales, I. Nelson, M. Beuvin, E. Lacene, D. Sternberg, J. Nectoux, M. Martin-Negrier, M. Bartoli, M. Cossee, F. Leturcq, G. Sole, M. Krahn, N. Romero, B. Eymard, G. Bonne Source Type: research