Neuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carriers—Authors’ reply
Bibliographic record
Abstract
We appreciate the interest in our work and the opportunity to discuss the diagnosis of peripheral neuropathy in the new family we describe [1]. While a nerve biopsy would have added to the evidence available regarding these cases, the hereditary neuropathy diagnosis was established based on the clinical picture, neurophysiology and family history (provided in detail in Supplemental Table 2 [1]). Subsequently, exome sequencing identified the MYH14 p.R941L mutation in all affected individuals. As the R941L mutation was previously associated with axonal neuropathy [2,3], it was not considered necessary to include a nerve biopsy for clinical purposes, especially as this procedure is invasive and frequently has unpleasant permanent side-effects [4].
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.027 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.002 | 0.004 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.017 | 0.018 |
| Insufficient payload (model declined to judge) | 0.006 | 0.004 |
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 source (direct Gemma or distilled Codex), 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".