COL6A1 돌연변이에 의해 발생한 산발성 Ullrich 병 1례
A Case of Sporadic Ullrich Congenital Muscular Dystrophy Caused by a COL6A1 Mutation
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초록
Ullrich disease is a rare congenital muscular dystrophy, which is clinically characterized by generalized muscular weakness,distal joint hyperextensibility, proximal joint contractures, protuberant calcanei and high-arched palate. The disease is caused by collagen VI deficiency in interstitum and/or sarcolemma of skeletal muscles, for which mutations either in COL6A1,COL6A2 or COL6A3 are responsible. We report a girl who presented with symptoms typical of Ullrich disease, in whom the diagnosis was confirmed by immunohistochemistry and molecular genetic study
Abstract
Ullrich disease is a rare congenital muscular dystrophy, which is clinically characterized by generalized muscular weakness,distal joint hyperextensibility, proximal joint contractures, protuberant calcanei and high-arched palate. The disease is caused by collagen VI deficiency in interstitum and/or sarcolemma of skeletal muscles, for which mutations either in COL6A1,COL6A2 or COL6A3 are responsible. We report a girl who presented with symptoms typical of Ullrich disease, in whom the diagnosis was confirmed by immunohistochemistry and molecular genetic study
참고문헌 (9)
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