Article
Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.
Diabetes - 1 Nov 2004
Edghill Emma L, Gloyn Anna L, Gillespie Kathleen M, Lambert A Paul, Raymond Neil T, Swift Peter G, Ellard Sian, Gale Edwin A M, Hattersley Andrew T
Abstract excerpt
We have recently shown that permanent neonatal diabetes can be caused by activating mutations in KCNJ11 that encode the Kir6.2 subunit of the beta-cell ATP-sensitive K(+) channel. Some of these patients were diagnosed after 3 months of age and presented with ketoacidosis and marked hyperglycemia, which could have been diagnosed as type 1 diabetes. We hypothesized that KCNJ11 mutations could present clinically as...
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