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Article

[Epidermolysis bullosa simplex with progressive muscular dystrophy due to plectin deficiency].

Nederlands tijdschrift voor geneeskunde - 5 Aug 2000

Schuur J, De Weerdt C J

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10979819

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.

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[Epidermolysis bullosa simplex with progressive muscular dystrophy due to plectin deficiency].PMID 10979819Read ↗

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

Epidermolysis bullosa simplex with muscular dystrophy.Semantic proximity Read ↗

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Plectin deficient epidermolysis bullosa simplex with 27-year-history of 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 Mutations Can Cause Epidermolysis Bullosa with Pyloric AtresiaSemantic proximity Read ↗

Myasthenic syndrome caused by plectinopathy.Semantic proximity Read ↗

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

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

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

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive 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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