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Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

Mendelian DisorderGenetic DisorderMedicineGeneticsPathologyDegenerative DiseaseMolecular GeneticsDisease Gene IdentificationPlec1 GeneNeuromuscular PathologyEpidermolysis Bullosa SimplexCongenital Muscular Dystrophy