Abstract
A genotype-phenotype study based on the primary clinical features of adult myotonic dystrophy (DM) included 116 patients from 62 Italian pedigrees. A significant correlation between clinical severity and the number of repeats at the 3′ untranslated region of the myotonin-protein kinase gene (MT-PK) was found. These results suggest that the CTG amplification is directly related to the myotonic dystrophy phenotype and provide important information on morbidity and prognosis in this disease.
Original language | English |
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Pages (from-to) | 85-92 |
Number of pages | 8 |
Journal | Biochemical Medicine and Metabolic Biology |
Volume | 50 |
Issue number | 1 |
DOIs | |
Publication status | Published - Aug 1993 |
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Biochemistry