CTG triplet repeat expansion in a laryngeal carcinoma from a patient with myotonic dystrophy
β Scribed by Ryuichi Osanai; Masanobu Kinoshita; Kazuhiko Hirose; Toshio Homma; Isuzu Kawabata
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 130 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0148-639X
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β¦ Synopsis
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 longer in the laryngeal carcinoma. These findings support the hypothesis that elongation of the CTG repeat in the DM kinase gene occurs during acquired cell proliferation.
π SIMILAR VOLUMES
Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by highly variable clinical features that include myotonia, progressive muscle weakness, smooth muscle involvement, hypersomnia, testicular atrophy, endocrine abnormalities, cardiac conduction blocks, and ~a t a r a c t . ~ The
To determine the founder of Indian myotonic dystrophy mutation, we have studied the expansion of CTG repeats in myotonin protein kinase gene and two intragenic linked loci Alu(ins) / Alu(del) and G/T intron 9 Hinf1 polymorphism in ten unrelated DM patients from eastern India. Out of these ten patien