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PGM1 and congenital myopathy are reported together in 2 articles.
Gene
PGM1
- HGNC
- HGNC:8905
4articles
4mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Congenital myopathy
134articles
134mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.
PMID 41182978 | PMCID PMC12594020 | DOI 10.12659/AJCR.948797 · The American journal of case reports · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGM1 | “Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “CDG Type 1T, associated with mutations in the phosphoglucomutase 1 (PGM1) gene, often presents with hepatic dysfunction, developmental delay, and multisystem involvement.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “CASE REPORT We report a 20-month-old boy, born to consanguineous parents, who initially received a misdiagnosis of galactosemia following abnormal newborn screening.” | 0.80 | saudi_context_rules_v1 |
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).
PMID 36709920 | PMCID PMC10192047 | DOI 10.1016/j.trsl.2023.01.004 · Translational research : the journal of laboratory and clinical medicine · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGM1 | “Phosphoglucomutase 1 (PGM1) deficiency is recognized as the third most common N-linked congenital disorders of glycosylation (CDG) in humans.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “Recently, we discovered that oral D-galactose supplementation improved liver disease, endocrine, and coagulation abnormalities, but does not alleviate the fatal cardiomyopathy and the associated myopathy.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).” | 0.98 | phenotype_alias_lexicon_v2 |