ArticleCureus2024
Limb-Girdle Type Congenital Myasthenic Syndrome Anticipated With Scoliosis: A Case Report.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital myasthenic syndromes (CMS) comprise a group of inherited disorders that impair signal transduction as well as the structural integrity of the neuromuscular junction. Since there are several gene mutations associated with CMS, including the rare GFPT1 gene, the clinical presentation of this condition is quite variable. Importantly, patients with the same genotype can exhibit different clinical features. CMS type 12, as seen in our patient, is characterized by weakness of the limb-girdle muscles, which was anticipated with scoliosis. It is important to note that scoliosis is not generally linked to the GFPT1 mutation, and based on our case, it contributed to a broader and more complex clinical presentation.
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.