Article
Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.
Biochemistry and molecular biology international - 1 Feb 1993
Novelli G, Gennarelli M, Zelano G, Pizzuti A, Fattorini C, Caskey C T, Dallapiccola B
Abstract excerpt
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.
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