Article ; Online: Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia.
2019 Volume 8, Page(s) 666
Abstract: Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised. Affected ... We report an affected child, from a consanguineous family, who presented in the first weeks of life ... exome sequencing in the affected child and segregation analysis within the family, which revealed ...
| Abstract | Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised. Affected patients can present with severe symptoms of hypomagnesaemia, such as seizures or cardiac arrhythmia. We report an affected child, from a consanguineous family, who presented in the first weeks of life with seizures secondary to hypomagnesaemia, without other associated clinical features. We performed whole exome sequencing in the affected child and segregation analysis within the family, which revealed a novel homozygous missense mutation in |
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| MeSH term(s) | Child ; Humans ; Magnesium/blood ; Mutation |
| Chemical Substances | Magnesium (I38ZP9992A) |
| Language | English |
| Publishing date | 2019-05-15 |
| Publishing country | England |
| Document type | Case Reports ; Journal Article |
| ZDB-ID | 2699932-8 |
| ISSN | 2046-1402 ; 2046-1402 |
| ISSN (online) | 2046-1402 |
| ISSN | 2046-1402 |
| DOI | 10.12688/f1000research.19006.2 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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