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KMID : 0861220100120010027
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Journal of the Korean Society Clinical Neurophysiology
2010 Volume.12 No. 1 p.27 ~ p.31
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A Case of Sporadic Ullrich Congenital Muscular Dystrophy Caused by a COL6A1 Mutation
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Park Young-Eun
Kim Tae-Hyoung
Kim Hyang-Suk
Kim Dae-Seong
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Abstract
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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.
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KEYWORD
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Ullrich disease, Collagen VI, COL6A
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