Bibliographic record
Abstract
Myoclonus Dystonia (MD) is an autosomal dominant disease with high but incomplete penetrance and is characterized by both involuntary myoclonic jerks and dystonic posturing. Our group has found that mutations within the epsilon sarcoglycan (SGCE) gene on chromosome 7q21 are associated with MD in 30-40% of affected individuals in 31 families studied, supporting the basis for genetic heterogeneity. Novel mutations have been found in SGCE by screening these families for point mutations and large deletions and duplications through the use of sequencing, high performance liquid chromatography (HPLC) and multi˙ligation probe amplification (MLPA) analysis. A 10cM genome wide linkage analysis of a large Canadian family provided significant LOD scores for microsatellite markers within the 18p11 region, now designated as the DYT 15 locus. Further haplotype analysis has narrowed a non-recombinant region associated with the disease phenotype to a 3.18 Mb region in this locus. Since the current understanding of Myoclonus Dystonia is poor, it is difficult to predict genes that could be responsible for MD. Sarcoglycans are essential constituents of the dystrophin-glycoprotein complex and are involved in linking the extracellular lamanin matrix to the actin filaments within the cytoplasm; therefore focus is given to the examination of potentially related structural genes that are expressed in the brain. By analyzing such candidate genes in a panel of affected individuals, we believe that a novel gene will be elucidated and provide insight into the mechanism of Myoclonus Dystonia.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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".