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Article

Myotonic dystrophy with no trinucleotide repeat expansion

1 Mar 1994

Abstract excerpt

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...

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Identifiers

PMID: 8122879
DOI: 10.1002/ana.410350305

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