Associated Papers
Tissue-Selective Effects of PLEC Isoform Deficiency: Insights From A Muscle Only Phenotype.
Gundesli H et al.
Muscle & Nerve, 2026
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K et al.
International Journal of Molecular Sciences, 2023
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Vahidnezhad H et al.
Human Mutation, 2022
Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features.
Mroczek M et al.
Genes, 2020
[Research advances in limb-girdle muscular dystrophy type 2Q].
Zhang M et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q.
Zhong J et al.
Molecular Medicine Reports, 2017
Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).
Mahmood OA et al.
Molecular Medicine Reports, 2014
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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