Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Congenital myopathy and epidermolysis bullosa due to PLEC variant.

Neuromuscular disorders : NMD - 1 Nov 2021

Walter Maggie C, Reilich Peter, Krause Sabine, Hiebeler Miriam, Gehling Stefanie, Goebel Hans H, Schoser Benedikt, Abicht Angela

Abstract excerpt

We report on an adult Turkish patient with mild myopathy with a fiber-type disproportion and mitochondrial disorganization caused by genetic variants in the plectin gene (PLEC). Molecular genetic panel testing revealed two homozygous variants in PLEC (NM_000445.4): c.8306C>G (p.Pro2769Arg) and c.7506 + 5C>G (p. ?) that were classified as variants of unknown significance (class 3) following ACMG guidelines for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Pedigree
Share to Epidermolysis Bullosa Simplex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Mutation

Share to Myotonia Congenita

Share to Phenotype

Share to Plectin

Source

Identifiers

PMID: 34702657
DOI: 10.1016/j.nmd.2021.09.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital myopathy and epidermolysis bullosa due to PLEC variant.PMID 34702657Read ↗

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

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

Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.Semantic proximity Read ↗

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

Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness.Semantic proximity Read ↗

Adult-Onset PLEC-Related Congenital Myasthenic Syndrome-Myopathy Overlap with Upper Limb Predominant WeaknessSemantic 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 ↗

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.Semantic 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 ↗

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

Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.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 ↗

⌁Select a neighboring publication to make it the new centre.