Pain in Myotonic Muscular Dystrophy, Type 1
β Scribed by Gregory T. Carter; Mark P. Jensen; Amy J. Hoffman; Brenda L. Stoelb; Richard T. Abresch; Craig M. McDonald
- Book ID
- 116237533
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 56 KB
- Volume
- 89
- Category
- Article
- ISSN
- 1532-821X
No coin nor oath required. For personal study only.
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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 A man with spinal and bulbar muscular atrophy (SBMA) had a short (CTG)n expansion in the myotonic dystrophy protein kinase gene as well as (CAG)n expansion in the androgen receptor gene in leukocytes. The patient had the characteristic clinical findings of SBMA, but none of myotonic dys
## 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