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Homozygous myotonic dystrophy: Clinical findings in two patients and review of the literature

✍ Scribed by Christine Zühlke; Elizabeth Roeder; Sabine Purmann; Dagmar Wieczorek; Cynthia Curry; Cheri Loustalet; Yorck Hellenbroich; Hans Helmut Richardt; Gabriele Gillessen-Kaesbach


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
161 KB
Volume
143A
Category
Article
ISSN
1552-4825

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✍ Geifman-Holtzman, Ossie; Fay, Karen 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

The molecular basis of the myotonic dystrophy (MD) kinase gene is expansion of the CTG repeat at the 3-untranslated region of the MD gene. Variability of the CTG repeat size in different tissues of affected individuals has been demonstrated. The objective of this report was to examine and review the