Two Adjacent Mutations on Chromosome 16 Discovered in a Patient Presenting with Generalized Convulsions after Influenza A Virus Infection
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概要
- 論文の詳細を見る
A 49-year-old otherwise healthy man was admitted to our hospital because of repeated generalized convulsions after influenza A virus infection. His family history was notable for consanguinity of parents. Initial laboratory tests revealed metabolic alkalosis with hypomagnesemia, as well as an elevated high density lipoprotein cholesterol level. He was diagnosed with Gitelmans syndrome and cholesteryl ester transfer protein deficiency by identifying homozygous mutations of causative genes, SLC12A3 and CETP, respectively. These two genes are located in the vicinity on chromosome 16, suggesting the possibility of autozygosity. This is the first case report highlighting the co-existence of these genetic disorders.
著者
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Koshiyama Hiroyuki
Center For Diabetes & Endocrinology The Tazuke Kofukai Foundation Medical Research Institute Kit
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Nozu Kandai
Department Of Pediatrics Kobe University Graduate School Of Medicine
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Nozu Kandai
Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
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Iwasaki Yorihiro
Center for Diabetes & Endocrinology, The Tazuke Kofukai Foundation Medical Research Institute Kitano Hospital, Japan
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Iwasaki Yorihiro
Center for Diabetes & Endocrinology, Tazuke Kofukai Medical Research Institute Kitano Hospital, Japan
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Takahashi Makio
Center for Neurology, The Tazuke Kofukai Foundation Medical Research Institute Kitano Hospital, Japan
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Matsumoto Sadayuki
Center for Neurology, The Tazuke Kofukai Foundation Medical Research Institute Kitano Hospital, Japan
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