DM1_DMPK
- Gene
- DMPK
- Disease
- DM1
- Inheritance
- AD
- Classification
- Definitive
- Total Score
- 18
- Publications Reviewed
- 6
- Publication Span
- 25.28 years
- Last Updated
- 07/21/2025
- Curator(s)
- Laurel Hiatt
Genetic evidence
Total: 12
| Collective Evidence | Allele | PMID:32851192 PMID:39643839 | 2 | Interruptions impact phenotype/onset; several studies have shown correlation between allele length and onset/disease severity | ||
| Singular Evidence | Probands | PMID:20635151 | 6 | 50 patients | ||
| Statistics | Case-Control Data | PMID:7847063 | 4 | Case-control study was carried out on 25 patients with myotonic dystrophy (MyD) and 25 healthy subjects (p < 0.0001) |
3 rows
Experimental evidence
Total: 6
| Rescue | Rescue in non-human model organism | PMID:39932794 | 2 | MBNL overexpression rescues cardiac phenotypes in a myotonic dystrophy type 1 heart mouse model | ||
| Rescue | Rescue in cell culture | PMID:16027111 | 1 | Knock-down of endogenous hnRNP H expression by siRNAs in cells expressing an EGFP gene fused to CUG repeats leads to release of nuclear sequestrated transcripts and restoration of EGFP expression | ||
| Models | Non-human model organism | PMID:31649961 | 2 | Alkaline phosphatase-positive pericytes from skeletal muscle of a transgenic mouse model | ||
| Functional Alteration | Patient cells | PMID:31649961 | 1 | Alkaline phosphatase-positive pericytes from skeletal muscle of DM1 patients |
4 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.