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The ryanodine contracture test may help diagnose susceptiblity to malignant hyperthermia

✍ Scribed by Daniel A. Reuter; Martin Anetseder; Rainer Müller; Norbert Roewer; Edmund J. Hartung

Book ID
105692757
Publisher
Springer-Verlag
Year
2003
Tongue
French
Weight
85 KB
Volume
50
Category
Article
ISSN
1496-8975

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C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response
✍ M. Steinfath; S. Singh; J. Scholz; K. Becker; C. Lenzen; F. Wappler; A. Köchling 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 773 KB

In swine, a point mutation in the ryanodine receptor gene can account for all cases of malignant hyperthermia (MH). The frequency of a corresponding mutation in humans (C1840-T) and its relationship to the in vitro contracture profile is unknown. We screened 192 patients from 28 unrelated northern G