A Family of Bethlem Myopathy

J Korean Neurol Assoc > Volume 24(6); 2006 > Article

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

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