J Korean Neurol Assoc.
2006 Dec;24(6):614-617.
A Family of Bethlem Myopathy
- Affiliations
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- 1Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. sunwooin@yumc.yonsei.ac.kr
- 2Department 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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