Abstract
The expression of myotonin-protein kinase (MT-PK) gene was studied in myotonic dystrophy (DM) muscle and normal controls using a polymerase chain reaction protocol to analyse the 3' intragenic p(CTG) polymorphism. Unaffected individuals show biallelic expression, while the sole wild-type allele was transcribed in DM muscle. Our findings support a gene dosage effect in the pathogenesis of the disease.
Original language | English |
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Pages (from-to) | 291-297 |
Number of pages | 7 |
Journal | Biochemistry and Molecular Biology International |
Volume | 29 |
Issue number | 2 |
Publication status | Published - 1993 |
ASJC Scopus subject areas
- Biochemistry
- Genetics
- Molecular Biology