ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2017
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in
Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
12 citing papers in PubMed, 3 syntheses or guidelines pooled it, 17 citations in OpenAlex.
- Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.BMC neurology · 2025Pooled it
- Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports.Current neuropharmacology · 2021Pooled it
- Congenital myasthenic syndromes.Orphanet journal of rare diseases · 2019Pooled it
- Congenital myasthenic syndromes in a Southeast Asian adult neurology clinic: a long road to diagnosis and therapy.BMC neurology · 2026Article
- Phenotypic Diversity in Pediatric Congenital Myasthenic Syndrome: Insights from CHRNE and DPAGT1 Variants.Neurology international · 2026Article
- Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.Acta neuropathologica communications · 2025Article
- Congenital Myasthenic Syndrome-4C in a Consanguineous Romani Family: Genetic Insights and Clinical Implications.Diagnostics (Basel, Switzerland) · 2025Article
- Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.Neurology. Clinical practice · 2024Article
- Homozygous Duplication in theBiomedicines · 2023Article
- Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.BMC neurology · 2022Review
- Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.Frontiers in neurology · 2022Article
- Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital myasthenic syndromes (CMS) are rare and heterogeneous genetic diseases characterized by compromised neuromuscular transmission and clinical features of fatigable weakness; age at onset, presenting symptoms, distribution of weakness, and response to treatment differ depending on the underlying molecular defect. Mutations in one of the multiple genes, encoding proteins expressed at the neuromuscular junction, are currently known to be associated with subtypes of CMS. The most common CMS syndrome identified is associated with mutation in the CHRNE gene, causing principally muscle nicotinic acetylcholine receptor deficiency, that results in reduced receptor density on the postsynaptic membrane. We describe the clinical, neurophysiological and molecular features of two unrelated CMS Italian families with marked phenotypic variability, carrying the already reported p.T159P mutation in the
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Identifiers
28690392PMC5479107W2806496656What OpenQuestion holds
Registered trials
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.