Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy

Ying Hui Fu; David L. Friedman; Stephen Richards; Joel A. Pearlman; Richard A. Gibbs; Antonio Pizzuti; Tetsuo Ashizawa; M. Benjamin Perryman; Guglielmo Scarlato; Raymond G. Fenwick; C. Thomas Caskey

doi:10.1126/science.8469976

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy

Ying Hui Fu, David L. Friedman, Stephen Richards, Joel A. Pearlman, Richard A. Gibbs, Antonio Pizzuti, Tetsuo Ashizawa, M. Benjamin Perryman, Guglielmo Scarlato, Raymond G. Fenwick, C. Thomas Caskey

Research output: Contribution to journal › Article › peer-review

304 Scopus citations

Abstract

The myotonic dystrophy mutation has recently been identified; however, the molecular mechanism of the disease is still unknown. The sequence of the myotonin-protein kinase gene was determined, and messenger RNA spliced forms were identified in various tissues. Antisera were developed for analytical studies. Quantitative reverse transcription-polymerase chain reaction and radioimmunoassay were used to demonstrate that decreased levels of the messenger RNA and protein expression are associated with the adult form of myotonic dystrophy.

Original language	English (US)
Pages (from-to)	235-238
Number of pages	4
Journal	Science
Volume	260
Issue number	5105
DOIs	https://doi.org/10.1126/science.8469976
State	Published - 1993

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title = "Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy",

abstract = "The myotonic dystrophy mutation has recently been identified; however, the molecular mechanism of the disease is still unknown. The sequence of the myotonin-protein kinase gene was determined, and messenger RNA spliced forms were identified in various tissues. Antisera were developed for analytical studies. Quantitative reverse transcription-polymerase chain reaction and radioimmunoassay were used to demonstrate that decreased levels of the messenger RNA and protein expression are associated with the adult form of myotonic dystrophy.",

author = "Fu, {Ying Hui} and Friedman, {David L.} and Stephen Richards and Pearlman, {Joel A.} and Gibbs, {Richard A.} and Antonio Pizzuti and Tetsuo Ashizawa and Perryman, {M. Benjamin} and Guglielmo Scarlato and Fenwick, {Raymond G.} and Caskey, {C. Thomas}",

year = "1993",

doi = "10.1126/science.8469976",

language = "English (US)",

volume = "260",

pages = "235--238",

journal = "Science",

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publisher = "American Association for the Advancement of Science",

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T1 - Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy

AU - Fu, Ying Hui

AU - Friedman, David L.

AU - Richards, Stephen

AU - Pearlman, Joel A.

AU - Gibbs, Richard A.

AU - Pizzuti, Antonio

AU - Ashizawa, Tetsuo

AU - Perryman, M. Benjamin

AU - Scarlato, Guglielmo

AU - Fenwick, Raymond G.

AU - Caskey, C. Thomas

PY - 1993

Y1 - 1993

N2 - The myotonic dystrophy mutation has recently been identified; however, the molecular mechanism of the disease is still unknown. The sequence of the myotonin-protein kinase gene was determined, and messenger RNA spliced forms were identified in various tissues. Antisera were developed for analytical studies. Quantitative reverse transcription-polymerase chain reaction and radioimmunoassay were used to demonstrate that decreased levels of the messenger RNA and protein expression are associated with the adult form of myotonic dystrophy.

AB - The myotonic dystrophy mutation has recently been identified; however, the molecular mechanism of the disease is still unknown. The sequence of the myotonin-protein kinase gene was determined, and messenger RNA spliced forms were identified in various tissues. Antisera were developed for analytical studies. Quantitative reverse transcription-polymerase chain reaction and radioimmunoassay were used to demonstrate that decreased levels of the messenger RNA and protein expression are associated with the adult form of myotonic dystrophy.

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JO - Science

JF - Science

IS - 5105

ER -

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy

Abstract

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