Article
ACVR1R206H receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A.
Science translational medicine - 2 Sept 2015
Hatsell Sarah J, Idone Vincent, Wolken Dana M Alessi, Huang Lily, Kim Hyon J, Wang Lili, Wen Xialing, Nannuru Kalyan C, Jimenez Johanna, Xie Liqin, Das Nanditha, Makhoul Genevieve, Chernomorsky Rostislav, D'Ambrosio David, Corpina Richard A, Schoenherr Christopher J, Feeley Kieran, Yu Paul B, Yancopoulos George D, Murphy Andrew J, Economides Aris N
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by episodically exuberant heterotopic ossification (HO), whereby skeletal muscle is abnormally converted into misplaced, but histologically normal bone. This HO leads to progressive immobility with catastrophic consequences, including death by asphyxiation. FOP results from mutations in the intracellular domain of the type I BMP...
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