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Article

Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia - 1 Nov 2021

Papez Jan, Starha Jiri, Slaba Katerina, Hubacek Jaroslav A, Pecl Jakub, Aulicka Stefania, Urik Milan, Ceylaner Serdar, Vesela Petra, Slaby Ondrej, Jabandziev Petr

Abstract excerpt

BACKGROUND: Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare genetic disorder. Dysfunctional transient receptor potential melastatin 6 causes impaired intestinal absorption of magnesium, leading to low serum levels accompanied by hypocalcemia. Typical signs at initial manifestation are generalized seizures, tetany, and/or muscle spasms. CASE REPORT: We present a 5 w/o female manifesting...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34012148
DOI: 10.5507/bp.2021.027

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