The evolving spectrum of LAMA2 related congenital muscular dystrophy (MDC1)-Case series and review of literature
Bibliographic record
Abstract
• This case series provides varied spectrum in Laminin α2-related muscular dystrophy (LAMA2-MD) and to establish a well-characterized baseline cohort of patients for future studies. • The phenotypic spectrum of LAMA2 muscular dystrophy varies from severe early onset congenital muscular dystrophy (MCD1) to mild variant of late onset muscular dystrophy (LAMA2-MD). The MCD1is characterized by hypotonia, frequent respiratory and feeding issues with less commonly with epilepsy. • Neuroimaging findings aids in the diagnosis of MCD1. Involvement of corpus callosum (CC) in MCD1 may mimic the pattern of CC involvement in mitochondrial disorders. • Normal IQ, peripheral neuropathy, and borderline CPK values do not argue against the diagnosis of MDC1. Also, onset of clinical features in early infancy may not have severe outcome which is interesting in our study.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.005 | 0.004 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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".