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
Differences in CTG triplet repeat expansions in an ovarian cancer and cyst from a patient with myotonic dystrophy
โ Scribed by Masanobu Kinoshita; Akira Igarashi; Tetsuo Komori; Hirokazu Tamura; Masatoshi Hayashi; Katsuyuki Kinoshita; Takeo Deguchi; Kazuhiko Hirose
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 176 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0148-639X
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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