eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | dystrophy, myotonic |
| Comorbidity | C0027868|neuromuscular diseases |
| Sentences | 1 |
| PubMedID- 23583633 | Muscleblind-like proteins (mbnl1 and mbnl2) are sequestered in various tissues within the neuromuscular diseases of myotonic dystrophy types 1 (dm1) and 2 (dm2) in response to expansions of cug repeats in the 3′utr of the myotonic dystrophy protein kinase (dmpk) (harley et al., 1992; mahadevan et al., 1992), or ccug repeats in the zinc finger protein 9 (znf9) (ranum et al., 1998), respectively. |
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