Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)

Functional characterization of novel mut

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3

✍ Brandon Itzkovitz; Sarn Jiralerspong; Graeme Nimmo; Melissa Loscalzo; Dafne D. G 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 433 KB

Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of plasmalogens, a specialized class of membrane phospholipids. Classically, patients have a skeletal dysplasia and profound mental retardation, although milder phenotypes are increasingly