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

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

Neurogenetics - 18 Apr 2026

Jose Angel, Azily Aina Jasrul, Doyle Katie, Stals Karen, Lees Hayley, McKenna Caoimhe, McKnight Amy Jayne, McConville John, McMacken Grace

Abstract excerpt

Congenital myasthenic syndromes (CMS) are genetically heterogeneous disorders in which precise molecular diagnosis is essential for management. Pathogenic variants in PLEC are a rare cause of autosomal recessive CMS and are frequently associated with epidermolysis bullosa simplex (EBS). We report an adult-onset case with EBS from birth, upper limb–predominant weakness, combined myopathic and myasthenic features,...

Topics

Join the communities discussing this publication.

Age of Onset
Epidermolysis Bullosa Simplex
Muscle Weakness
Muscular Diseases
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myasthenic Syndromes, Congenital

Source

Open in PubMed Open full text

Identifiers

PMID: 41999517
DOI: 10.1007/s10048-026-00900-8
PMCID: PMC13091873

Genes

PLEC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness.PMID 41999517Read ↗

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

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

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

Update on Congenital Myopathies in AdulthoodSemantic proximity Read ↗

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

Clinical, Neurological, and Genetic Characterization of Polyglucosan Body Myopathy Type 1 (PGBM1) in a Pediatrics Patient: Expanding the Spectrum of RBCK1-Related DisordersSemantic proximity Read ↗

Congenital myopathies.Semantic proximity Read ↗

Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.Semantic proximity Read ↗

Novel pathogenic variants and genes for myopathies identified by whole exome sequencingSemantic 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 ↗

Congenital myopathies.Semantic proximity Read ↗

[Congenital myasthenic syndromes in adulthood : Challenging, rare but treatable].Semantic proximity Read ↗

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