Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family

C1840-T mutation in the human skeletal m

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