Focus The dynamic genomics of myotonic dystrophy and its clinical relevance: an overview

G. Novelli; M. Gennarelli; C. Fattorini; C. Abbruzzese; B. Dallapiccola

doi:10.1016/0753-3322(93)90081-U

Focus The dynamic genomics of myotonic dystrophy and its clinical relevance: an overview

G. Novelli, M. Gennarelli, C. Fattorini, C. Abbruzzese, B. Dallapiccola

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

Abstract

The cloning of the myotonic dystrophy gene has explained the unique inheritance characteristics of this disease (anticipation, incomplete penetrance, variable expressivity) and has confirmed genomic instability as a mechanism of human diseases.

Original language	English
Pages (from-to)	321-330
Number of pages	10
Journal	Biomedicine and Pharmacotherapy
Volume	47
Issue number	8
DOIs	https://doi.org/10.1016/0753-3322(93)90081-U
Publication status	Published - 1993

Keywords

anticipation
MT-PK
Myotonic dystrophy
myotonin protein kinase

ASJC Scopus subject areas

Pharmacology

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title = "Focus The dynamic genomics of myotonic dystrophy and its clinical relevance: an overview",

abstract = "The cloning of the myotonic dystrophy gene has explained the unique inheritance characteristics of this disease (anticipation, incomplete penetrance, variable expressivity) and has confirmed genomic instability as a mechanism of human diseases.",

keywords = "anticipation, MT-PK, Myotonic dystrophy, myotonin protein kinase",

author = "G. Novelli and M. Gennarelli and C. Fattorini and C. Abbruzzese and B. Dallapiccola",

year = "1993",

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AU - Novelli, G.

AU - Gennarelli, M.

AU - Fattorini, C.

AU - Abbruzzese, C.

AU - Dallapiccola, B.

PY - 1993

Y1 - 1993

N2 - The cloning of the myotonic dystrophy gene has explained the unique inheritance characteristics of this disease (anticipation, incomplete penetrance, variable expressivity) and has confirmed genomic instability as a mechanism of human diseases.

AB - The cloning of the myotonic dystrophy gene has explained the unique inheritance characteristics of this disease (anticipation, incomplete penetrance, variable expressivity) and has confirmed genomic instability as a mechanism of human diseases.

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KW - MT-PK

KW - Myotonic dystrophy

KW - myotonin protein kinase

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Focus The dynamic genomics of myotonic dystrophy and its clinical relevance: an overview

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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