Partial Deletion of EMD Gene in a Patient With Emery-Dreifuss Muscular Dystrophy
Bibliographic record
Abstract
Introduction. Emery-Dreifuss muscular dystrophy ( EDMD) is a genetic disease that can be inherited as autosomal dominant, autosomal recessive or X-linked form. The recessive X-linked form of EDMD is caused by mutations in the EMD gene . Methods. I mmunohistochemistry of muscle biopsy of the patient with specific antibodies for dystrophin, sarcoglycans and emerin . DNA analysis of the patient and his relatives include homemade Multiplex Ligation-dependent Probe Amplification (MLPA) analysis, Extended Polymerase Chain Reaction (Long PCR) and DNA sequencing. Results. We present a case of a 16 -year-old male patient with pacemaker implantation due to atrioventricular block. Muscle biopsy showed immunohistochemistry pattern negative for emerin . DNA analysis showed a deletion of 2640 bp expanding from the 5’ region, including the 5’-UTR and exon 1 and part of exon 2 of EMD gene. The new mutation is the fifth large deletion reported in the EMD gene and is associated to early cardiac symptoms. doi:10.4021/jnr107w
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 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".