Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy
Bibliographic record
Abstract
X-linked myopathy with excessive autophagy (XMEA) (MIM 310440) is an X-linked recessive boyhood-onset disorder of skeletal muscle with a slowly progressive course toward wasting of proximal muscles of the lower extremities and wheelchair dependency by the fifth decade of life. Involvement of distal leg muscles and upper extremities is clinically evident late in the disease.1–4 Skeletal muscle pathology is characterized by a constellation of rare and unique features. Autophagic vacuoles containing cellular debris are present in the sarcoplasm, and at the sarcolemma extruding their contents to the extracellular space. Myofibers containing vacuoles have multiple layers of basement membrane. Intense calcium accumulation is seen at the myofiber periphery, in the absence of necrosis. Extensive deposition of complement membrane attack complex (MAC) is present at the myofiber surface, without resultant cell lysis. Finally, class I major histocompatibility complex is expressed, despite the absence of inflammation.1–4 Nerve conduction studies (NCS) are normal but …
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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 | 0.000 | 0.000 |
| 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".