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J Korean Neurol Assoc. 2006 Dec;24(6):614-617. Korean. Case Report.
Suh BC , Choi YC , Kim SM , Choi BO , Shim DS , Lee DH , Sunwoo IN .
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. sunwooin@yumc.yonsei.ac.kr
Department of Neurology, Ewha Womans University College of Medicine, 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.

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