Oculomotor involvement in myotonic dystrophy type 2
โ Scribed by Senda Ajroud-Driss; Robert Sufit; Teepu Siddique; Timothy C. Hain
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 145 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0148-639X
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## Abstract Myotonic dystrophy type 1 (DM1) is associated with both skeletal and cardiac muscle involvement. The aim of the present study was to determine whether familial clustering is observed in the severity of muscle involvement in DM1. We evaluated 51 sibling groups constituting 112 patients w
## Abstract Myotonic dystrophy (DM1), the most common adult muscular dystrophy, is a multisystem, autosomal dominant genetic disorder caused by an expanded CTG repeat that leads to nuclear retention of a mutant RNA and subsequent RNA toxicity. Significant insights into the molecular mechanisms of R