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Article

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

The Journal of clinical investigation - 15 Nov 1996

Chavanas S, Pulkkinen L, Gache Y, Smith F J, McLean W H, Uitto J, Ortonne J P, Meneguzzi G

Abstract excerpt

Plectin is a widely expressed cytomatrix component involved in the attachment of the cytoskeleton to the plasma membrane. We have recently reported that the skin and muscles of three patients affected by epidermolysis bullosa simplex with muscular dystrophy (MD-EBS), a genetic disorder characteri...

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Identifiers

PMID: 8941634
DOI: 10.1172/JCI119028
PMCID: PMC507667

Genes

CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8941634-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.PMID 8941634Read ↗

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

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

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

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

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

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

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

Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.Semantic proximity Read ↗

Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation.Semantic proximity Read ↗

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

Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation.Semantic proximity Read ↗

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