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Advances in Duchenne and myotonic dystrophy.

Authors
Type
Published Article
Journal
Current Opinion in Rheumatology
1040-8711
Publisher
Ovid Technologies (Wolters Kluwer) - Lippincott Williams & Wilkins
Publication Date
Volume
5
Issue
6
Pages
706–711
Identifiers
PMID: 8117531
Source
Medline
License
Unknown

Abstract

In this exciting era in the investigation of the muscular dystrophies, we are now in the process of identifying how specific gene mutations cause the clinical features observed in patients. Between the gene defect and the disease symptoms lies altered protein expression, which directly affects the pathophysiology of disease progression. A specific gene defect has been identified for Duchenne and myotonic dystrophy, and we are now in the interesting stage of working out exactly how gene and protein expression are related to clinical phenotype.

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