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

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 journal › Article › peer-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 language	English
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

Cite this

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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.",

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AU - Novelli, G.

AU - Gennarelli, M.

AU - Zelano, G.

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AU - Fattorini, C.

AU - Caskey, C. T.

AU - Dallapiccola, B.

PY - 1993

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AB - 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.

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

Abstract

ASJC Scopus subject areas

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