THE DYNAMIC GENOMICS OF MYOTONIC-DYSTROPHY AND ITS CLINICAL RELEVANCE- AN OVERVIEW

Authors
NOVELLI G GENNARELLI M FATTORINI C ABBRUZZESE C DALLAPICCOLA B
Citation
G. Novelli et al., THE DYNAMIC GENOMICS OF MYOTONIC-DYSTROPHY AND ITS CLINICAL RELEVANCE- AN OVERVIEW, Biomedicine & pharmacotherapy, 47(8), 1993, pp. 321-330
Citations number
83
Categorie Soggetti
Pharmacology & Pharmacy","Medicine, Research & Experimental
Journal title
Biomedicine & pharmacotherapy → ACNP
ISSN journal
07533322
Volume
47
Issue
8
Year of publication
1993
Pages
321 - 330
Database
ISI
SICI code
0753-3322(1993)47:8<321:TDGOMA>2.0.ZU;2-F
Abstract
The cloning of the myotonic dystrophy gene has explained the unique in heritance characteristics of this disease (anticipation, incomplete pe netrance, variable expressivity) and has confirmed genomic instability as a mechanism of human diseases.