ArticleBiomedicines2023
Homozygous Duplication in the
Article in Biomedicines, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.
- Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.BMC neurology · 2025Pooled it
- Congenital Myasthenic Syndrome-4C in a Consanguineous Romani Family: Genetic Insights and Clinical Implications.Diagnostics (Basel, Switzerland) · 2025Article
- Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia.Journal of clinical medicine · 2024Article
- Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in theFrontiers in genetics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
BACKGROUND AND
objectivesCongenital myasthenic syndromes (CMSs) are rare inherited diseases characterized by muscle weakness and fatigability on exertion resulting from defects in the neuromuscular junctions. Mutations in 32 genes have been reported as the underlying causes of CMS, with mutations in the cholinergic receptor nicotinic epsilon subunit (
resultsHigh-quality exome sequencing followed by bidirectional Sanger sequencing revealed a homozygous duplication variant (NM_000080.4: c.1220-8_1227dup) in the splice acceptor site of exon 11 of the
conclusionsThis is the first report of long-term follow up of cases with homozygous insertion (c.1220-8_1227dup) in the
Indexed as
Identifiers
What 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.