[HTML][HTML] Modeling of a novel patient-based MYO5B point mutation reveals insights into MVID pathogenesis
order that presents with severe secretory diarrhea, typically within the first few hours of life.
Inactivating mutations of myosin VB (MYO5B) cause MVID, which usually requires lifetime
total parenteral nutrition or smallbowel transplantation. 1 A recent analysis of 114 MYO5B
mutations identified in MVID patients demonstrated that most mutations were compound
heterozygous. 2 Although previously developed homozygous MYO5B knockout animal
models showed success in recapitulating MVID, 3 there is a lack of research into the …
Inactivating mutations of myosin VB (MYO5B) cause MVID, which usually requires lifetime
total parenteral nutrition or smallbowel transplantation. 1 A recent analysis of 114 MYO5B
mutations identified in MVID patients demonstrated that most mutations were compound
heterozygous. 2 Although previously developed homozygous MYO5B knockout animal
models showed success in recapitulating MVID, 3 there is a lack of research into the …
