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Article

Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.

The Journal of investigative dermatology - 1 Dec 2003

Charlesworth Alexandra, Gagnoux-Palacios Laurent, Bonduelle Maryse, Ortonne Jean-Paul, De Raeve Linda, Meneguzzi Guerrino

Abstract excerpt

Genetic mutations in plectin, a cytoskeleton linker protein expressed in a large variety of tissues including skin, muscle, and nerves, cause epidermolysis bullosa simplex with muscular dystrophy, a recessive inherited disease characterized by blistering of the skin and late onset of muscular dystrophy, and Ogna epidermolysis bullosa simplex, a rare dominant inherited form of epidermolysis bullosa simplex with no...

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Source

Identifiers

PMID: 14675180
DOI: 10.1111/j.1523-1747.2003.12639.x

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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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.PMID 14675180Read ↗

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

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

Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy.Semantic proximity Read ↗

Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases.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 ↗

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.Semantic proximity Read ↗

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.Semantic proximity Read ↗

A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.Semantic proximity Read ↗

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

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.Semantic proximity Read ↗

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophySemantic proximity Read ↗

Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of PatientsSemantic proximity Read ↗

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