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Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene.
Biomarker and diagnostic research for congenital muscular dystrophy caused by variation in POMGNT2 has been reported in the published literature.
No clinical trials have been registered for congenital muscular dystrophy caused by variation in POMGNT2.
101 publications have been identified in PubMed for congenital muscular dystrophy caused by variation in POMGNT2. Research spans Basic Science / Preclinical (23%), Review / Meta-Analysis (21%), and Case Report / Case Series (21%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 19 | 23% |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC
Research summaries |
17 |
21% |
Patient case studies | 17 | 21% |
Disease patterns and progression | 14 | 17% |
New treatment approaches | 6 | 7% |
Testing and diagnosis research | 5 | 6% |
Clinical study results | 2 | 2% |
Other research | 1 | 1% |
Muelas N (2026). [PMID: 41054283](https://pubmed.ncbi.nlm.nih.gov/41054283/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Cunha B (2026). [PMID: 30969679](https://pubmed.ncbi.nlm.nih.gov/30969679/). *Unknown Journal*. [Gene Therapy / Novel Therapeutics]
Reinhard JR (2026). [PMID: 41635088](https://pubmed.ncbi.nlm.nih.gov/41635088/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Gaviglio A (2026). [PMID: 40673334](https://pubmed.ncbi.nlm.nih.gov/40673334/). *Crit Rev Clin Lab Sci*. [Review / Meta-Analysis]
Sahota RJ (2026). [PMID: 32644695](https://pubmed.ncbi.nlm.nih.gov/32644695/). *Unknown Journal*. [Basic Science / Preclinical]
Johari M (2026). [PMID: 41678358](https://pubmed.ncbi.nlm.nih.gov/41678358/). *Brain*. [Basic Science / Preclinical]
López-Márquez A (2026). [PMID: 41287928](https://pubmed.ncbi.nlm.nih.gov/41287928/). *Dis Model Mech*. [Basic Science / Preclinical]
Śledzińska K (2026). [PMID: 41906416](https://pubmed.ncbi.nlm.nih.gov/41906416/). *Pediatr Obes*. [Epidemiology / Natural History]
Rossini E (2026). [PMID: 41251564](https://pubmed.ncbi.nlm.nih.gov/41251564/). *Muscle Nerve*. [Epidemiology / Natural History]
Risso B (2025). [PMID: 41373710](https://pubmed.ncbi.nlm.nih.gov/41373710/). *Int J Mol Sci*. [Review / Meta-Analysis]