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- W113244754 abstract "Myotonic dystrophy is a heritable, slowly progressive muscle disorder with involvement of multiple organ systems. Not only the muscles are affected, but also the eye, heart, gastrointestinal tract, skin, immune system, endocrine system, skull, kidneys (1), and brain (2). Moreover, these systems may be affected differentially, the age at onset is variable, as well as the course of the disease. The severity of the disease tends to increase from one generation to the next, while the age of onset decreases. This phenomenon is called anticipation. The underlying genetic mechanism of myotonic dystrophy is that of dynamic mutations, which it shares with fragile X syndrome, Huntington’s disease, and almost 20 other diseases affecting the central nervous system (NS). The molecular mechanisms of myotonic dystrophy have been partly elucidated in the last 10 years. All these characteristics make myotonic dystrophy “perhaps the most variable of human disorders” (3)." @default.
- W113244754 created "2016-06-24" @default.
- W113244754 creator A5080775371 @default.
- W113244754 date "2003-01-01" @default.
- W113244754 modified "2023-09-23" @default.
- W113244754 title "Behavioral Phenotype in Myotonic Dystrophy (Steinert’s Disease)" @default.
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- W113244754 doi "https://doi.org/10.1007/978-1-59259-353-8_10" @default.
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