Article
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.
Nature genetics - 1 Jun 2002
Walder Roxanne Y, Landau Daniel, Meyer Peter, Shalev Hanna, Tsolia Maria, Borochowitz Zvi, Boettger Melanie Barbara, Beck Gretel E, Englehardt Richard K, Carmi Rivka, Sheffield Val C
Abstract excerpt
Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect in the intestinal absorption of magnesium, rather than by abnormal renal loss of magnesium....
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