INTERGENERATIONAL CONTRACTION OF THE CTG REPEATS IN 2 FAMILIES WITH MYOTONIC DYSTROPHY TYPE 1
Bibliographic record
Abstract
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder caused by the expansion of an unstable CTG trinucleotide repeat at chromosome region 19q13.3.1 The number of CTG repeats is unstable in the abnormal range and usually increases in size in successive generations, in association with anticipation.2,3 A decrease in the CTG repeat size during transmission from parents to child can also occur in about 6.4% of transmissions, most frequently during paternal transmissions (10%).4 In the French-Canadian DM1 population, intergenerational contractions occur in about 7.4% of transmissions, all in cases of paternal transmission. We report here 2 French-Canadian DM1 families with paternal transmission, both originating from the Saguenay-Lac St-Jean, in which all affected children display CTG contractions. Although it was already reported that intergenerational contractions could be observed in several sibs in a same family, it was not noted whether this occurred in all affected sibs.4 Overall, these observations support the existence of a paternal factor that prevents CTG expansion. ### Case reports. The pedigree of the 2 families and Southern blot analysis are shown in the figure. Figure Family tree and Southern blot Pedigree of family (A, B). (C, D) Southern blot analysis. The DNA (3–5 μg) was …
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.004 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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".