Ontology highlight
ABSTRACT:
SUBMITTER: Kan L
PROVIDER: S-EPMC3894630 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Kan Lixin L Kitterman Joseph A JA Procissi Daniele D Chakkalakal Salin S Peng Chian-Yu CY McGuire Tammy L TL Goldsby Robert E RE Pignolo Robert J RJ Shore Eileen M EM Kaplan Frederick S FS Kessler John A JA
Journal of neurology 20120627 12
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder of progressive heterotopic ossification (HO) caused by a recurrent activating mutation of ACVR1/ALK2, a bone morphogenetic protein (BMP) type I receptor. FOP is characterized by progressive HO, which is associated with inflammation in the setting of dysregulated BMP signaling, however, a variety of atypical neurologic symptoms are also reported by FOP patients. The main objective of this study is to investigate the potential ...[more]