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J Korean Neurol Assoc. 2006;24(6):614-617.
- A Family of Bethlem Myopathy
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Bum Chun Suh
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Department of Neurology, Yonsei University College of Medicine, Seoul;
Department of Neurology, Ewha Womans University College of Medicinea, Seoul, Korea
- 베들렘 근병증 1가계
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서범천, 최영철 김승민 최병옥a 심동석 이동현 선우일남
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연세대학교 의과대학 신경과학교실, 이화여자대학교 의과대학 신경과학교실a
- Abstract
- Bethlem myopathy (BM) is an early-onset benign autosomal dominant myopathy characterized by proximal muscle weakness and multiple contractures. It is caused by mutations in the three genes encoding collagen VI, which is a ubiquitous extracellular matrix protein forming a microfibrillar network in close association with the basement membrane. Here, we present a family with BM which is the first reported Korean case. KeyWords:Bethlem myopathy, Collagen VI, Immunohistochemical stain
Keywords :
- 초록
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