Article
Symmetrical glial hyperplasia in the brainstem of fibrodysplasia ossificans progressiva.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Apr 2021
Mori Shinichiro, Suzuki Satoshi O, Honda Hiroyuki, Hamasaki Hideomi, Sakae Nobutaka, Sasagasako Naokazu, Furuya Hirokazu, Iwaki Toru
Abstract excerpt
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease, characterized by the progressive ossification of skeletal muscles, fascia, tendons, and ligaments. In most cases, the great toes of patients show symmetrical congenital malformations. The causative gene for FOP has been identified as the activin A receptor, type 1 (ACVR1) gene (ACVR1). The ACVR1 R206H mutation is the most common...
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