Article

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

2026-01-28

Abstract excerpt

<title>Abstract</title> <p>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 CMS and are frequently associated with epidermolysis bullosa simplex. We report an adult-onset case with upper limb–predominant weakness, combined myopathic and myasthenic features, and cardiomyopa...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 11e496f3-07cf-5632-bb35-bcf11dcf6036
DOI: 10.21203/rs.3.rs-8602044/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Adult-Onset PLEC-Related Congenital Myasthenic Syndrome-Myopathy Overlap with Upper Limb Predominant WeaknessDOI 10.21203/rs.3.rs-8602044/v1Read

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

Update on Congenital Myopathies in AdulthoodSemantic proximity Read

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

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.Semantic proximity Read

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.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

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.Semantic proximity Read

Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.Semantic proximity Read

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

Distal myopathies – New genetic entities expand diagnostic challengeSemantic proximity Read

Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.Semantic proximity Read