Evidence map›Paper›PMID 41999517›Full record

ArticleNeurogenetics2026

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

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

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurogenetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Angel Jose *School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.
Aina Jasrul Azily *School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.
Katie DoyleDepartment of Neurology, Ulster Hospital, South Eastern Health and Social Care Trust, Belfast, UK.
Karen StalsExeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
Hayley LeesExeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
Caoimhe McKennaNorthern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, UK.
Amy Jayne McKnightCentre for Public Health, Queen's University Belfast, Belfast, UK.
John McConvilleDepartment of Neurology, Ulster Hospital, South Eastern Health and Social Care Trust, Belfast, UK.
Grace McMackenCentre for Public Health, Queen's University Belfast, Belfast, UK. g.mcmacken@qub.ac.uk.

Funding

Academy of Medical Sciences SGCL033\1116Muscular Dystrophy UK 25GRO-PG12-0865-1
6 · The paper itself

Abstract

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, and subtle cardiomyopathy. Initial CMS gene panel testing identified a heterozygous canonical splice-site variant in PLEC. Subsequent trio exome sequencing revealed a second heterozygous intronic variant in trans, and RNA analysis demonstrated intron retention resulting in a frameshift, enabling variant reclassification and definitive diagnosis. This case expands the phenotypic spectrum of PLEC-related disease and highlights the value of transcript-level analysis in resolving cryptic Mendelian disorders.

Indexed as

Muscle WeaknessMuscular DiseasesMyasthenic Syndromes, CongenitalPlectinAdultAge of OnsetEpidermolysis Bullosa SimplexHumansMaleMutationPhenotypePLEC protein, humanPlectinCongenital myasthenic syndromeGenetic diagnosisIntronic variantPLECRNA analysis

Identifiers

PMID41999517
PMCPMC13091873

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.