I am a
Home I AM A Search Login

Papers of the Week

2020 Apr 16

J Pediatr Gastroenterol Nutr

Mutations in Myosin 5B (MYO5B) in Children with Early Onset Cholestasis.


Cockar I, Foskett P, Strautnieks S, Clinch Y, Fustok J, Rahman O, Sutton H, Mtegha M, Fessatou S, Kontaki E, Papaevangelou V, Deheragoda M, Thompson RJ, Grammatikopoulos T
J Pediatr Gastroenterol Nutr. 2020 Apr 16.
PMID: 32304554.


Mutations in Myosin 5B (MYO5B) are known to be associated with microvillous inclusion disease (MVID) a genetic cause of neonatal intractable diarrhoea. More recently they have been reported in children with cholestasis but without typical gastrointestinal symptoms of MVID. We describe our series of children with cholestasis and mutations in MYO5B.