| 萎缩性肌强直症二例及其家系调查 |
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| 引用本文： | 黄舜韶,林谷辉.萎缩性肌强直症二例及其家系调查[J].暨南大学学报,1985(4). |
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| 作者姓名： | 黄舜韶 林谷辉 |
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| 作者单位： | 暨南大学医学院神经科，暨南大学医学院神经科 |
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| 摘 要： | 本文报导同一家族中患萎缩性肌强直症2例。调查资料表明该家族三代具有本病患者共11人,男9人,女2人。临床表现为肌萎缩,肌强直,并伴代谢障碍。病程发展缓慢,呈常染色体显性遗传。文中对本病的遗传特征,预防和治疗等问题作了讨论。
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| 关 键 词： | 萎缩性肌强直症 病例报告 显性遗传 |
MYOTONIC DYSTROPHY TWO CASES WITH FAMILY INVESTIGATON |
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| Huang Xun-Shao Lin Gu-Hui Dept of Neurology JUMC.MYOTONIC DYSTROPHY TWO CASES WITH FAMILY INVESTIGATON[J].Journal of Jinan University(Natural Science & Medicine Edition),1985(4). |
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| Authors: | Huang Xun-Shao Lin Gu-Hui Dept of Neurology JUMC |
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| Institution: | Huang Xun-Shao Lin Gu-Hui Dept of Neurology JUMC |
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| Abstract: | 2 cases of myotonic dystrophy occurring in the same family were reported. Investigation material shows that there are 11 persons suffering from the mentioned disease for three generations within the family, 9 being male and 2 female. The clinical manifestations were muscular atrophy and myotone accompanied by metabolic dysfunction. The course of the disease developd slowly. The autosomal is of dominant inheritance. The discussions of inherited characferistics, prevention and treatment of the disease were also made in the present paper. |
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| Keywords: | Myotonic dystrophy Dominant inheritance Case report |
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