A global defect in scaling relationship between electrical activity and availability of muscle sodium channels in hyperkalemic periodic paralysis

Linkage of malignant hyperthermia and hy

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree

✍ Moslehi, Roxana; Langlois, Sylvie; Yam, Irene; Friedman, J.M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 54 KB 👁 1 views

Hyperkalemic periodic paralysis (HPP) is caused by mutations of the adult skeletal muscle sodium channel (SCN4A) gene on chromosome 17. Malignant hyperthermia (MH) is a genetically heterogeneous autosomal-dominant disorder occurring in association with various neuromuscular diseases or without other