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Article

Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.

Human mutation - 1 Oct 2010

Natsuga Ken, Nishie Wataru, Shinkuma Satoru, Arita Ken, Nakamura Hideki, Ohyama Makiko, Osaka Hitoshi, Kambara Takeshi, Hirako Yoshiaki, Shimizu Hiroshi

Abstract excerpt

Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. Mutations in the gene encoding plectin (PLEC) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with pyloric atresia (EBS-PA). Previous studies have demonstrated that loss of full-length plectin with residual expression of...

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Source

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Identifiers

PMID: 20665883
DOI: 10.1002/humu.21330
PMCID: PMC3023027

Genes

PLEC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.PMID 20665883Read ↗

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.Semantic proximity Read ↗

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).Semantic proximity Read ↗

Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.Semantic proximity Read ↗

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.Semantic proximity Read ↗

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.Semantic proximity Read ↗

The many faces of plectin and plectinopathies: pathology and mechanisms.Semantic proximity Read ↗

Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia.Semantic proximity Read ↗

Epidermolysis bullosa simplex with muscular dystrophy.Semantic proximity Read ↗

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplexSemantic proximity Read ↗

Plectin gene defects lead to various forms of epidermolysis bullosa simplex.Semantic proximity Read ↗

Myasthenic syndrome caused by plectinopathy.Semantic proximity Read ↗

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.Semantic proximity Read ↗

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