ArticleCase reports in genetics2026
Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental
Article in Case reports in genetics, 2026. 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
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Who cites it
1 citing paper in PubMed.
- Hereditary Myopathy With Early Respiratory Failure Associated With an IncidentalCase reports in genetics · 2026Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Hereditary myopathy with early respiratory failure (HMERF) is a rare autosomal dominant disorder caused by Case Presentation: A 34-year-old male developed progressive lower limb weakness, gait disturbance, nocturnal hypoventilation, and calf hypertrophy. Family history revealed similar symptoms in his mother and sister. Examination showed absent reflexes; MRI demonstrated muscle atrophy and fatty replacement; needle electromyography (EMG) was performed and showed findings consistent with advanced myopathy; however, it was not used as a primary diagnostic tool. Whole-exome sequencing identified a pathogenic Discussion and Conclusion: This case illustrates a classic HMERF phenotype confirmed genetically, with an incidental
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