ArticleEuropean journal of translational myology2017
Congenital Myasthenic Syndrome due to
Article in European journal of translational myology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses 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
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.
- Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review.BMC neurology · 2025Pooled it
- Congenital myasthenic syndromes.Orphanet journal of rare diseases · 2019Pooled it
- DOK7 congenital myasthenic syndrome: case series and review of literature.BMC neurology · 2024Review
- Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.Nature communications · 2024Article
- Homozygous Duplication in theBiomedicines · 2023Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Article
- Comprehensive analysis of DOK family genes expression, immune characteristics, and drug sensitivity in human tumors.Journal of advanced research · 2022Article
- [Advances in the diagnosis and treatment of congenital myasthenic syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- Delayed diagnosis of DOK7 congenital myasthenic syndrome: Case report and literature review.Neurology. Clinical practice · 2018Article
- EJTM3 is also covering Mobility and Medicine at large, an update.European journal of translational myology · 2018Article
- An innovative way to highlight the power of each polymorphism on elite athletes phenotype expression.European journal of translational myology · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness, and scoliosis since childhood. Another female sibling had milder signs, while other family members were asymptomatic. Facial nerve repetitive stimulation in the proband showed decrement of muscle responses. Single fiber EMG revealed increased jitter and blocking. Muscle biopsy showed type 2-fiber atrophy, without tubular aggregates. Mutational analysis in the three affected siblings revealed two compound heterozygous mutations in Discussion: Two of the affected sisters showed marked improvement with salbutamol treatment, which illustrates the benefits of a correct diagnosis and treatment of DOK7-CMS.
Indexed as
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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.