Bibliographic record
Abstract
We previously reported a new, autosomal dominant or sporadic, proximal myopathy characterized by mild myalgias and muscle weakness, and the presence of intracytoplasmic, hexagonally cross‐linked tubular arrays in type 2 muscle fibres ( Ann Neurol 45:512, 1999). We report the ultrastructural and immunohistochemical characterization of identical inclusions in another patient with an apparent sporadic form of the disease. This 45‐year old male underwent quadriceps femoris muscle biopsy for an upper extremity myalgias and CK activity found at 1,900 (N < 220 iU/L). He had no family history of muscle disease and parents were not consanguineous. Gomori stain revealed rod‐shaped intensely blue cytoplasmic inclusions in type 2 muscle fibres reminiscent of nemaline bodies. Inclusions were strongly positive for caveolin‐3 and negative for desmin, actin, myosin, vimentin, ubiquitin and components of sarcolemma. They displayed characteristic hexagonal crystalloid tubular arrays joined by double bridging arms and were not connected to cytoskeleton or any other organelles. The inclusions were very often surrounded by globular small structures measuring approximately 37 nm and reminiscent of caveolae. This is the first demonstration of chemical nature of the cytoplasmic inclusions in this condition. This disease is probably more common than reported, since the inclusions are very similar to nemaline bodies with light and electron microscopy, and misdiagnosed without grid tilting. At this point, it is not clear whether the underlying process is an excessive formation of caveolae or inability of cell to discharge or degrade caveolin, which conglomerate in the large intracytoplasmic masses.
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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 | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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 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".