Bibliographic record
Abstract
Editor—Myotonic dystrophy (DM) is the most common form of inherited neuromuscular disease in adults and is characterised by progressive muscle wasting and myotonia. The mutation responsible for DM has been identified as the amplification of a polymorphic (CTG)n repeat in the 3′ untranslated region of a gene encoding a serine/threonine kinase ( DMPK ).1-2 The DM trinucleotide repeat is highly polymorphic in normal subjects, ranging from 5 to 37 CTG repeats, while 1000 or more CTG repeats have been observed in congenital DM cases.1-3 It is now generally accepted that the CTG repeat length is correlated with clinical severity and the age at onset of the disease; therefore, genetic tests are essential in the monitoring and management of DM patients and their family members.4-6 Homozygous DM cases have very rarely been published.7 8It was assumed that the homozygous state was lethal in DM or at least so severe that it would lead to intrauterine death. Cobo et al 7 studied a consanguineous French-Canadian family in which two sisters were homozygous for the “at risk” haplotype but were asymptomatic and showed no evidence of DM on extensive clinical examination. Both sisters possessed two alleles with repeat sizes normally seen in minimally affected patients. Both parents were affected. Martorell et al 8 described three unrelated homozygous myotonic dystrophy patients. One patient had the classical form of myotonic dystrophy and the other two were mildly affected. A remarkable feature was the mildness of the phenotype in the homozygous patients; one, for example, had late onset cataract as the only manifestation. Along with the observations of Cobo et al 7and Martorell …
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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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.008 | 0.002 |
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".