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Myotonic dystrophy with no trinucleotide repeat expansion.

Authors
Type
Published Article
Journal
Annals of neurology
Publication Date
Volume
35
Issue
3
Pages
269–272
Identifiers
PMID: 8122879
Source
Medline
License
Unknown

Abstract

We report 3 patients from 2 families with myotonic dystrophy who do not show an abnormal expansion of CTG trinucleotide repeats within the myotonic dystrophy gene. Characteristic features of myotonic dystrophy in these patients were frontal balding, cataracts, cardiac conduction abnormalities, and testicular atrophy with myotonia and muscle weakness. Results of muscle histopathology were consistent with myotonic dystrophy. Genetic analysis of leukocyte and muscle DNA showed a normal number of CTG repeats. The demonstration of normal CTG repeat number for the myotonic dystrophy gene does not exclude the diagnosis of myotonic dystrophy.

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