Abstract
The cloning of the myotonic dystrophy gene has explained the unique inheritance characteristics of this disease (anticipation, incomplete penetrance, variable expressivity) and has confirmed genomic instability as a mechanism of human diseases.
Original language | English |
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Pages (from-to) | 321-330 |
Number of pages | 10 |
Journal | Biomedicine and Pharmacotherapy |
Volume | 47 |
Issue number | 8 |
DOIs | |
Publication status | Published - 1993 |
Keywords
- anticipation
- MT-PK
- Myotonic dystrophy
- myotonin protein kinase
ASJC Scopus subject areas
- Pharmacology