DES encodes desmin (470 aa). Muscle-specific type III intermediate filament essential for proper muscular structure and function. Highest expression in Esophagus Muscularis (14,058 TPM) and Colon Sigmoid (13,011 TPM).

Myofibrillar myopathy 1 is associated with mutations in the DES gene on chromosome 2.

The DES protein participates in Des-acyl Ghrelin, Preproghrelin and prepro-des-Gln14-ghrelin, and Proghrelin and Pro-des-Gln14-ghrelin pathways.

DES is classified as a druggable target with score 17.4.

Genetic testing for DES is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for myofibrillar myopathy 1.

33 publications have been identified in PubMed for myofibrillar myopathy 1. Research spans Basic Science / Preclinical (39%), Case Report / Case Series (33%), and Epidemiology / Natural History (24%).

Recent Publications

• Guérémy A (2026). [PMID: 41943552](https://pubmed.ncbi.nlm.nih.gov/41943552/). *Muscle Nerve*. [Epidemiology / Natural History]

• Baskar D (2026). [PMID: 41406637](https://pubmed.ncbi.nlm.nih.gov/41406637/). *Neuromuscular disorders : NMD*. [Basic Science / Preclinical]

• De Los Reyes FVA (2026). [PMID: 42104873](https://pubmed.ncbi.nlm.nih.gov/42104873/). *Muscle Nerve*. [Case Report / Case Series]

• Mathy CS (2026). [PMID: 41854206](https://pubmed.ncbi.nlm.nih.gov/41854206/). *Journal of cachexia, sarcopenia and muscle*. [Case Report / Case Series]

• Bruge C (2026). [PMID: 41869723](https://pubmed.ncbi.nlm.nih.gov/41869723/). *JCI Insight*. [Basic Science / Preclinical]

• Batoumeni V (2025). [PMID: 40639258](https://pubmed.ncbi.nlm.nih.gov/40639258/). *European journal of cell biology*. [Case Report / Case Series]

• Sanchez-Casado L (2025). [PMID: 39798170](https://pubmed.ncbi.nlm.nih.gov/39798170/). *Neuromuscular disorders : NMD*. [Case Report / Case Series]

• Stentenbach M (2025). [PMID: 40480980](https://pubmed.ncbi.nlm.nih.gov/40480980/). *Nature communications*. [Basic Science / Preclinical]

• Eggers B (2025). [PMID: 40033788](https://pubmed.ncbi.nlm.nih.gov/40033788/). *Muscle & nerve*. [Basic Science / Preclinical]

• Holtzhausen C (2025). [PMID: 40947309](https://pubmed.ncbi.nlm.nih.gov/40947309/). *Neuropathology and applied neurobiology*. [Basic Science / Preclinical]