Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle

G. Novelli, M. Gennarelli, G. Zelano, A. Pizutti, C. Fattorini, C. T. Caskey, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)291-297
Number of pages7
JournalBiochemistry and Molecular Biology International
Volume29
Issue number2
Publication statusPublished - 1993

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

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