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.
|Number of pages||7|
|Journal||Biochemistry and Molecular Biology International|
|Publication status||Published - 1993|
ASJC Scopus subject areas
- Molecular Biology