<i>MYO5B</i> Mutations in Patients With Microvillus Inclusion Disease Presenting With Transient Renal Fanconi Syndrome

Abstract

: MYO5B mutations have divergent effects on the apical membrane system in kidney and intestinal epithelial cells. Epithelial defects presented in MVID are therefore likely triggered by intestine-specific factors, the identification of which may provide new targets and open avenues for the development of alternative therapeutic strategies to combat this devastating disease.