MICU1 related myopathy – a rare report from India
Bibliographic record
Abstract
Mitochondrial Calcium Uptake 1 ( MICU1 ) is an important component of mitochondrial calcium channel regulator. Mutations in MICU1 result in a rare syndrome of myopathy with extrapyramidal features. Here we report a rare case of MICU1 related myopathy from India. A 23 years old male presented with 10 years history of proximal muscle weakness with exertional myalgia and fatigue. Examination showed facial dysmorphism with facial weakness and mildly reduced visual acuity. Limb girdle pattern of weakness with hypoactive tendon reflexes were noted without extrapyramidal signs. He had elevated serum creatine level of 1542 IU/L. Muscle MRI had novel findings of selective fatty infiltration of hamstrings, medial gastrocnemius and soleus. Muscle biopsy showed myopathic with secondary neurogenic changes along with few COX deficient fibres. Genetic analysis showed compound heterozygous pathogenic variants in MICU1 gene at intron 9 (c.1072-1 G > C) – splice site variant and exon 5 (c.513T > A) – stop gained variant, both resulting in loss of function of the protein. The variants were segregating in unaffected parents in heterozygous state with variant c.1072-1 G > C in the unaffected father and variant c.513T > A (p. Tyr171*) in the unaffected mother confirming the diagnosis. This report highlights the phenotype of limb girdle weakness with facial dysmorphism and optic atrophy expanding the spectrum of MICU1 related syndrome with novel MRI muscle and histopathological findings.
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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) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| 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 | 0.001 |
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".