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Article

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

Journal of the American Society of Nephrology : JASN - 1 Oct 2005

Schlingmann Karl P, Sassen Martin C, Weber Stefanie, Pechmann Ulla, Kusch Kerstin, Pelken Lutz, Lotan Daniel, Syrrou Maria, Prebble Jeffrey J, Cole David E C, Metzger Daniel L, Rahman Shamima, Tajima Toshihiro, Shu San-Ging, Waldegger Siegfried, Seyberth Hannsjoerg W, Konrad Martin

Abstract excerpt

Primary hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder characterized by profound hypomagnesemia associated with hypocalcemia. Pathophysiology is related to impaired intestinal absorption of magnesium accompanied by renal magnesium wasting as a result of a reabsorption defect in the distal convoluted tubule. Recently, mutations in the TRPM6 gene coding for TRPM6, a member of the...

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Source

Identifiers

PMID: 16107578
DOI: 10.1681/ASN.2004110989

Genes

TRPM6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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