2005
DOI: 10.1002/mus.20301
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Clinical and molecular aspects of the myotonic dystrophies: A review

Abstract: Type 1 myotonic dystrophy or DM1 (Steinert's disease), which is the commonest muscular dystrophy in adults, has intrigued physicians for over a century. Unusual features, compared with other dystrophies, include myotonia, anticipation, and involvement of other organs, notably the brain, eyes, smooth muscle, cardiac conduction apparatus, and endocrine system. Morbidity is high, with a substantial mortality relating to cardiorespiratory dysfunction. More recently a second form of multisystem myotonic disorder ha… Show more

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Cited by 215 publications
(152 citation statements)
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References 113 publications
(125 reference statements)
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“…This in trans effect on the alternative splicing of many RNAs, which does not result in the production of mutant protein but leads to expression of spliced products inappropriate for a particular tissue, is the major molecular defect identified in DM1. 1,6 We provide evidence that splicing unbalance is present in undifferentiated and differentiated DM1 muscle cells. Moreover, similarly to what is observed in vivo, 8 also in vitro there is a correlation between the extend of the (CTG) n repeat size and the degree of abnormal splicing.…”
Section: Discussionmentioning
confidence: 75%
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“…This in trans effect on the alternative splicing of many RNAs, which does not result in the production of mutant protein but leads to expression of spliced products inappropriate for a particular tissue, is the major molecular defect identified in DM1. 1,6 We provide evidence that splicing unbalance is present in undifferentiated and differentiated DM1 muscle cells. Moreover, similarly to what is observed in vivo, 8 also in vitro there is a correlation between the extend of the (CTG) n repeat size and the degree of abnormal splicing.…”
Section: Discussionmentioning
confidence: 75%
“…DM1 and DM2 have common symptoms such as myotonia, muscle weakness and early cataract development. 1,2 Although DM1 and DM2 initially affect different muscles (distal versus proximal), histological analysis of the muscular tissues shows common aspects such as central nucleation. The classic form of DM1 is characterized by muscle distress with myotonia, progressive muscle weakness and wasting.…”
mentioning
confidence: 99%
“…DM1 patients are progressively affected to various degrees by myotonic dysfunction, cardiorespiratory and ophtalmological (cataract) problems [4,5]. The clinical severity and prognosis of DM1 is highly variable, and is positively correlated with the size of the CTG tract in DM1 alleles [6] (Table 1).…”
Section: Introductionmentioning
confidence: 99%
“…This autosomal dominantly inherited disease affects multiple organs, most prominently the skeletal muscle, with wasting, weakness, and an inability to relax (myotonia) (1). Currently, there is no effective treatment for this disabling disease.…”
mentioning
confidence: 99%