ArticleHeliyon2024
A case report of adolescent myofibrillar myopathy due to a
Article in Heliyon, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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.
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Who cites it
1 citing paper in PubMed, 3 citations in OpenAlex.
- Desmin-related myopathy manifested by various types of arrhythmias: a case report and literature review.The Journal of international medical research · 2024Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: Myofibrillar myopathies (MFM) are a group of sporadic and inherited progressive skeletal muscle disorders that can lead to physical disability and premature death. To date, pathogenic variants in different genes are associated with MFM. MFM induced by variants in the Desmin ( Case presentation: A 15-year-old boy with MFM was described, whose symptoms first presented as cardiac symptoms. Enlarged right and left atria, thickened ventricular septal (IVS) and mild mitral (MR) and tricuspid regurgitation (TR) in the echocardiography were found. Atrial fibrillation, intermittent atrioventricular (AV) block, ST-T changes in the dynamic electrocardiogram (ECG) were shown. Mild myopathic changes in the electromyographic exam were detected. Ultrastructural analysis found slight Z-line changes and a few small myolysis lesions, but no abnormal inclusion bodies. Genetic testing detected a heterozygous missense variant (c.1216C > T) of DES, and 2 rare variants:
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Registered trials
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