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DTNA encodes dystrobrevin alpha (743 aa). May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors Highest expression in Brain Spinal cord cervical c-1 (84.4 TPM) and Brain Hypothalamus (62.3 TPM).
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 is associated with mutations in the DTNA gene on chromosome 18.
The DTNA protein participates in Recruitment of dystrophin, dystrobrevin and syntrophin proteins to the DGC pathway.
DTNA is classified as a druggable target with score 1.6.
Genetic testing for DTNA is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 has been reported in the published literature.
No clinical trials have been registered for myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2.
46 publications have been identified in PubMed for myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 18 |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:36 PM UTC
Online Mendelian Inheritance in Man
Research summaries | 9 | 21% |
Disease patterns and progression | 6 | 14% |
Testing and diagnosis research | 4 | 9% |
Laboratory research | 4 | 9% |
Clinical study results | 2 | 5% |
Politei J (2026). [PMID: 41220247](https://pubmed.ncbi.nlm.nih.gov/41220247/). *Lipids*. [Review / Meta-Analysis]
Ko SQ (2026). [PMID: 41559634](https://pubmed.ncbi.nlm.nih.gov/41559634/). *BMC Health Serv Res*. [Clinical Trial Publication]
Emmerig D (2026). [PMID: 41808211](https://pubmed.ncbi.nlm.nih.gov/41808211/). *J Med Case Rep*. [Case Report / Case Series]
Ababio PA (2026). [PMID: 41994711](https://pubmed.ncbi.nlm.nih.gov/41994711/). *Cureus*. [Case Report / Case Series]
Hansell EJ (2026). [PMID: 40794192](https://pubmed.ncbi.nlm.nih.gov/40794192/). *Eur J Appl Physiol*. [Diagnostic / Biomarker]
Marzuillo P (2026). [PMID: 42171793](https://pubmed.ncbi.nlm.nih.gov/42171793/). *Eur J Pediatr*. [Epidemiology / Natural History]
Yamuna M (2026). [PMID: 41818115](https://pubmed.ncbi.nlm.nih.gov/41818115/). *J Assoc Physicians India*. [Case Report / Case Series]
Wang QS (2026). [PMID: 41630384](https://pubmed.ncbi.nlm.nih.gov/41630384/). *Am J Case Rep*. [Review / Meta-Analysis]
Dello Strologo A (2026). [PMID: 41637232](https://pubmed.ncbi.nlm.nih.gov/41637232/). *Cardiorenal Med*. [Epidemiology / Natural History]
Gernay M (2026). [PMID: 41888014](https://pubmed.ncbi.nlm.nih.gov/41888014/). *Rev Med Interne*. [Case Report / Case Series]