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A form of congenital muscular dystrophy in which the cause of the disease is pathogenic variation in the SNUPN gene. The phenotype is typically characterized by a variable degree of muscle weakness, elevated serum creatinine kinase, and myopathic signs in skeletal muscle. Extra-muscular features involving the ocular, skeletal, respiratory, and central nervous system may also be present.
Biomarker and diagnostic research for SNUPN-related muscular dystrophy with or without multi-system involvement has been reported in the published literature.
No clinical trials have been registered for SNUPN-related muscular dystrophy with or without multi-system involvement.
201 publications have been identified in PubMed for SNUPN-related muscular dystrophy with or without multi-system involvement. Kisho has analyzed 81 by research type. Research spans Review / Meta-Analysis (48%), Basic Science / Preclinical (20%), and Case Report / Case Series (17%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 39 |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 12:18 PM UTC
Common questions about SNUPN-related muscular dystrophy with or without multi-system involvement
Laboratory research | 16 | 20% |
Patient case studies | 14 | 17% |
Disease patterns and progression | 7 | 9% |
Testing and diagnosis research | 3 | 4% |
Other research | 1 | 1% |
Clinical study results | 1 | 1% |
Muelas N (2026). [PMID: 41054283](https://pubmed.ncbi.nlm.nih.gov/41054283/). *Ann Clin Transl Neurol*. [Case Report / Case Series]
Lynch CMK (2026). [PMID: 41549174](https://pubmed.ncbi.nlm.nih.gov/41549174/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Singh S (2026). [PMID: 41821602](https://pubmed.ncbi.nlm.nih.gov/41821602/). *Med J Armed Forces India*. [Other]
Wang YH (2026). [PMID: 41535924](https://pubmed.ncbi.nlm.nih.gov/41535924/). *Cardiovasc Diabetol*. [Epidemiology / Natural History]
Ottoboni L (2026). [PMID: 41720432](https://pubmed.ncbi.nlm.nih.gov/41720432/). *Neurobiol Dis*. [Review / Meta-Analysis]
Feng BD (2026). [PMID: 41574602](https://pubmed.ncbi.nlm.nih.gov/41574602/). *Ann Med*. [Review / Meta-Analysis]
Taylor M (2026). [PMID: 42196333](https://pubmed.ncbi.nlm.nih.gov/42196333/). *Int J Mol Sci*. [Review / Meta-Analysis]
Khanna D (2026). [PMID: 38261681](https://pubmed.ncbi.nlm.nih.gov/38261681/). *Unknown Journal*. [Basic Science / Preclinical]
Freda PU (2025). [PMID: 39757391](https://pubmed.ncbi.nlm.nih.gov/39757391/). *Expert Rev Endocrinol Metab*. [Review / Meta-Analysis]
Risi B (2025). [PMID: 40183436](https://pubmed.ncbi.nlm.nih.gov/40183436/). *Acta Myol*. [Review / Meta-Analysis]