Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
スポンサーリンク
概要
- 論文の詳細を見る
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy first described by Miyoshi in 1967. MM is caused by mutations of a dysferlin gene (DYSF) at chromosome 2p13. We identified 8 novel mutations and 3 polymorphisms in the DYSF among seven unrelated Japanese families. The mutations in our MM occurred throughout the DYSF and showed no mutational hot spot. Expression of dysferlin at the plasma membrane of skeletal muscle was deficient in all the patients studied. In two families, we found two distinct clinical phenotypes (distal and proximal dominancies) within a family. This is the first report of DYSF mutations and dysferlin deficiency in Japanese patients with MM. Our findings suggest, (1) the specific deficiency of dysferlin at the plasma membrane of skeletal muscle in MM, (2) the ethnic difference in DYSF mutations and (3) the presence of possible genetic or environmental modification factors which influence the clinical variability of MM.
- 日本学士院の論文
著者
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Ogawa Megumu
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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Matsumura Tsuyoshi
Department of Neurology, National Hospital Organization Toneyama National Hospital
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BROWN Robert
Day Neuromuscular Research Laboratory, Massachusetts General Hospital
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Nonaka Ikuya
Department Of Child Neurology National Center Hospital For Mental Mervous And Muscular Disorders Ncn
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Aoki Masashi
Department Of Neurology Tohoku University Graduate School Of Medicine
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Arahata Kiichi
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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Nagano Atsushi
Department Of Botany Graduate School Of Science Kyoto University
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Goto Kanako
Department Of Materials Science And Engineering Waseda University
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Hayashi Yukiko
Department Of Internal Medicine Asama General Hospital
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Yamanaka Gaku
Department Of Internal Medicine Tokyo Women's Medical University Medical Center East
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Saito Yuko
Department Of Pathology Tokyo Metropolitan Geriatric Hospital
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ASADA Chie
Day Neuromuscular Research Laboratory, Massachusetts General Hospital-East
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NAKAGAWA Masanori
The IIIrd Department of Internal Medicine, Kagoshima University
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OKA Hisayoshi
The IIIrd Department of Internal Medicine, The Jikei University School of Medicine
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SAHASHI Ko
The IVth Department of Internal Medicine, Aichi Medical University
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KOUHARA Nobuo
Department of Neurology, Kyoto University
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Saito Yuko
Department Of Industrial Chemistry Faculty Of Engineering Seikei University
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Brown Robert
Day Neuromuscular Research Laboratory Massachusetts General Hospital
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HAYASHI Yukiko
Department of Neuromuscular Research, National Institute of Neuroscience
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SAITO Yuko
Department of Neurology, University of Tokyo
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AOKI Masashi
Department of Neurology, Tohoku University
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Aoki Masashi
Department of Electrical and Electronic Engineering, National Defense Academy, 1-10-20 Hashirimizu, Yokosuka, Kanagawa 239-8686, Japan
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BROWN Robert
Day Neuromuscular Research Laboratory, Massachusetts General Hospital-East
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NAGANO Atsushi
Department of Neuromuscular Research, National Institute of Neuroscience
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GOTO Kanako
Department of Neuromuscular Research, National Institute of Neuroscience
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OGAWA Megumu
Department of Neuromuscular Research, National Institute of Neuroscience
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YAMANAKA Gaku
Department of Neuromuscular Research, National Institute of Neuroscience
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