Associated Papers
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Vahidnezhad H et al.
Human Mutation, 2022
Identifying Plectin Isoform Functions through Animal Models.
Castañón MJ et al.
Cells, 2021
Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features.
Mroczek M et al.
Genes, 2020
Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.
Deev RV et al.
Frontiers in Neurology, 2017
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L et al.
Acta Neuropathologica, 2013
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.
Gundesli H et al.
American Journal of Human Genetics, 2010
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