Article
A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.
Journal of medical genetics - 1 Apr 2014
Albaqumi Mamdouh, Alhabib Fatimah A, Shamseldin Hanan E, Mohammed Firdous, Alkuraya Fowzan S
Abstract excerpt
BACKGROUND: Congenital hyperinsulinism is a genetically heterogeneous disorder, but mutations in the components of the ATP-sensitive potassium channel K(ATP) account for more than a third of all isolated congenital hyperinsulinism cases. The association between congenital hyperinsulinism and rhabdomyolysis has not been reported. OBJECTIVE: To describe significant skeletal muscle manifestations in a family with a...
Topics
- Base Sequence
- Congenital Hyperinsulinism
- Family
- Female
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Single Nucleotide
- Potassium Channels, Inwardly Rectifying
- Rhabdomyolysis
- Syndrome
- Young Adult