Aceruloplasminemia with Juvenile-onset Diabetes Mellitus Caused by Exon Skipping in the Ceruloplasmin Gene
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概要
- 論文の詳細を見る
We herein report a case of aceruloplasminemia in a 27-year-old man who had a 10-year history of diabetes mellitus. The patient developed a convulsion, most likely as a result of hypoglycemia. Unexpectedly, this episode left him in a prolonged state of unconsciousness, which necessitated neurological testing and imaging. Brain MRI showed bilateral hypo-intensities in the basal ganglia and thalamus. Molecular analysis revealed a novel splicing mutation in the ceruloplasmin (CP) gene that would result in the skipping of exon 3 during transcription. This case suggests that diabetes associated with aceruloplasminemia can become manifest in the teens.(Internal Medicine 42: 599-604, 2003)
- 社団法人 日本内科学会の論文
- 2003-07-01
著者
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Okano Tomomi
Third Department Of Medicine Shinshu University School Of Medicine
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Yamamoto Kanji
Third Department Of Medicine Shinshu University School Of Medicine
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Oda Kayo
Department Of Internal Medicine Naruto General Hospital
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Hatanaka Yukiko
Department Of Internal Medicine Naruto General Hospital
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Yoshida Kunihiro
Division Of Clinical And Molecular Genetics Shinshu University Hospital
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- Aceruloplasminemia with Juvenile-onset Diabetes Mellitus Caused by Exon Skipping in the Ceruloplasmin Gene
- Aceruloplasminemia with Juvenile-onset Diabetes Mellitus Caused by Exon Skipping in the Ceruloplasmin Gene
- X-linked Dilated Cardiomyopathy with a Large Hot-spot Deletion in the Dystrophin Gene