Dilated Cardiomyopathy due to the Novel <i>MT-CYB</i> Missense Mutation m.14757T>C
Bibliographic record
Abstract
Mitochondrial DNA (mtDNA) mutations frequently manifest with multisystem disease, including cardiomyopathy (CM). Various studies described mutations in protein-encoding mtDNA genes, such as cytochrome-b, manifesting with CM. A detailed clinical, biochemical, and molecular genetic analysis was performed in a 40-year-old male with dilated CM (DCM) to detect the underlying mtDNA defect. Muscle biopsy showed complex-III deficiency, and sequencing of the cytochrome-b gene revealed the pathogenic variant m.14757T>C in MT-CYB , resulting in the replacement of the hydrophobic methionine by the polar threonine (M4T). By application of the PolyPhen algorithm the variant was predicted as pathogenic. The mutation was not found in 100 healthy controls and never reported as a neutral polymorphism despite extensive sequencing of the cytochrome-b gene in 2,704 normal healthy controls from different ethnic backgrounds. In conclusion, the novel variant m.14757T>C in MT-CYB is associated with DCM suggesting a pathophysiologic role of the variant in the development of DCM. J Med Cases. 2021;12(11):455-459 doi: https://doi.org/10.14740/jmc3787
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.004 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".