Article
Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.
Bone - 1 Mar 2016
Phatarakijnirund Voraluck, Mumm Steven, McAlister William H, Novack Deborah V, Wenkert Deborah, Clements Karen L, Whyte Michael P
Abstract excerpt
Congenital insensitivity to pain (CIP) comprises the rare heritable disorders without peripheral neuropathy that feature inability to feel pain. Fracturing and joint destruction are common complications, but lack detailed studies of mineral and skeletal homeostasis and bone histology. In 2013, discovery of a heterozygous gain-of-function mutation in SCN11A encoding voltage-gated sodium channel 1.9 (Nav1.9)...
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