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Journal of the Korean Neurological Association 2006;24(6): 614-617.
베들렘 근병증 1가계
서범천, 최영철 김승민 최병옥a 심동석 이동현 선우일남
연세대학교 의과대학 신경과학교실, 이화여자대학교 의과대학 신경과학교실a
A Family of Bethlem Myopathy
Bum Chun Suh
Department of Neurology, Yonsei University College of Medicine, Seoul; Department of Neurology, Ewha Womans University College of Medicinea, Seoul, Korea
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