초록 열기/닫기 버튼
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.
키워드열기/닫기 버튼
Bethlem myopathy, Collagen VI, Immunohistochemical stain
