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Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle
G Novelli1, M Gennarelli, G Zelano
1Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.
Biochemistry and Molecular Biology International
|February 1, 1993
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 bi-allelic 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.