Leigh syndrome (French Canadian type) caused by compound heterozygous mutations of LRPPRC gene: a case report
Bibliographic record
Abstract
Leigh syndrome (French-Canadian type, LSFC) is a rare autosomal recessive hereditary severe neurological disorder that begins in infancy. Herein we report a case with LSFC in China. The patient was 8 months old, male, whose clinical manifestations included delayed development, low muscle tone, unstable vertical head, inability to sit alone, cognitive impairment, slightly smaller forehead, oblique eyes, epilepsy, etc. Gene sequencing results showed that the LRPPRC gene in the infant had complex heterozygous mutations of c.2989G>A (newly reported) and c.4078G>A. Combined with the clinical manifestations, gene mutations and literatures, the infant was diagnosed as LSFC, and symptomatic rehabilitation was performed. The results of genetic testing can contribute to the early diagnosis and genetic counseling of LSFC patients, and help reduce the burden on the patients and their families. Key words: Leigh syndrome, French-Canadian type; LRPPRC gene; Gene sequencing; Infant
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 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) | 0.003 | 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".