Indeed, p.Glu122Lys CNNM2 membrane expression was significantly reduced compared with wild-type CNNM2 (66% decrease, P <0.05) and p.Ser269Trp CNNM2 showed a trend towards reduction (46% decrease, Figure 3B ).
← all excerpts
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
1
—
—