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- OHKUBO Ryuichi
- The Third Department of Internal Medicine, Kagoshima University School of Medicine
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- NAKAGAWA Masanori
- The Third Department of Internal Medicine, Kagoshima University School of Medicine
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- HIGUCHI Itsuro
- The Third Department of Internal Medicine, Kagoshima University School of Medicine
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- UTATSU Yasuhiko
- The Department of Neurology, Seiun Hospital
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- MIYAZATO Hirotaka
- The Department of Cardiology, Tenyokai Chuo Hospital
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- ATSUCHI Yoshihiko
- The Department of Cardiology, Tenyokai Chuo Hospital
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- OSAME Mitsuhiro
- The Third Department of Internal Medicine, Kagoshima University School of Medicine
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Objective We studied familial cases of skeletal myopathy with atrial fibrillation (Af) and atrioventricular (AV) block to compare the clinical features to other myopathies associated with cardiac abnormalities. Methods Neurologic, cardiologic, electrophysiologic, muscle pathology, and genetic studies were performed on the patients showing muscle weakness. Patients Four patients (a 63-year-old mother, 30 and 32-year-old sisters, and their maternal grandmother) and three healthy family members from three generations were studied. The mode of inheritance was suspected as autosomal dominant. Results Two sisters with congenital myopathy without rigid spine developed Af and AV block at the age of 28 and 18, respectively. The mother showed AV block, and underwent pacemaker implantation at the age of 63. The maternal grandmother had dilated cardiomyopathy, Af and severe lordosis. She died of stroke attacks and congestive heart failure at the age of 78. Muscle biopsy obtained from the mother and sisters showed myopathic changes without characteristic abnormalities. No mitochondrial DNA mutations were found. Other inherited myopathies with cardiac complications were not suspected in this family. Conclusion This Japanese family appears to belong to a new genetically heterogeneous group of autosomal dominant skeletal myopathy with severe AV block and Af.<br>(Internal Medicine 38: 856-860, 1999)
収録刊行物
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- Internal Medicine
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Internal Medicine 38 (11), 856-860, 1999
一般社団法人 日本内科学会
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詳細情報 詳細情報について
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- CRID
- 1390001204867581184
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- NII論文ID
- 10005530757
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- NII書誌ID
- AA10827774
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- COI
- 1:STN:280:DC%2BD3c%2FisFaluw%3D%3D
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- ISSN
- 13497235
- 09182918
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- NDL書誌ID
- 4904426
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- PubMed
- 10563745
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可