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Myotonic dystrophy with no trinucleotide repeat expansion

✍ Scribed by Dr. Charles A. Thornton; Robert C. Griggs; Richard T. Moxley III

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
483 KB
Volume
35
Category
Article
ISSN
0364-5134

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✦ Synopsis

We report 3 patients from 2 families with myotonic dystrophy who d o 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 rnyotonia 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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CTG triplet repeat expansion in a laryng
CTG triplet repeat expansion in a laryngeal carcinoma from a patient with myotonic dystrophy
✍ Ryuichi Osanai; Masanobu Kinoshita; Kazuhiko Hirose; Toshio Homma; Isuzu Kawabat πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 130 KB πŸ‘ 2 views

A 66-year-old Japanese man with myotonic dystrophy (DM) underwent total laryngectomy for laryngeal carcinoma. The size of the expanded DNA fragment (EF) from the leukocytes and normal laryngeal tissues of this patient was only slightly longer than that in normal subjects. EF, however, was markedly l