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Article

New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy.

Clinical and experimental dermatology - 1 Oct 2013

Chen Q, Lin Z M, Wang H J, Zhang J, Yin J H, Yang Y

Abstract excerpt

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Topics

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Share to Adolescent
Share to Codon, Nonsense
Share to Epidermolysis Bullosa Simplex
Share to Muscular Dystrophies, Limb-Girdle

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23496806
DOI: 10.1111/ced.12116

Genes

PLEC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy.PMID 23496806Read ↗

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

Novel compound heterozygous PLEC mutations lead to pure late-onset muscular dystrophySemantic proximity Read ↗

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

A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case reportSemantic proximity Read ↗

Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia.Semantic proximity Read ↗

Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1.Semantic proximity Read ↗

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

Congenital myopathy and epidermolysis bullosa due to PLEC variant.Semantic proximity Read ↗

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

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features.Semantic proximity Read ↗

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex.Semantic proximity Read ↗

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