Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
February 15, 2017, via The American Journal of Human Genetics
New open access research in The American Journal of Human Genetics identifies mutations in INPP5K, encoding inositol polyphosphate-5-phospatase K, impairing phosphatase activity and resulting in altered subcellular localization. The provided data links congenital muscular dystrophies to defective phosphoinositide 5-phosphatase activity. Imaging was performed using a Nikon A1R resonant scanning confocal microscope.
