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A Case of Sporadic Ullrich Congenital Muscular Dystrophy Caused by a COL6A1 Mutation  

Park, Young-Eun (Department of Neurology, Pusan National University Hospital)
Kim, Tae-Hyoung (Department of Neurology, Pusan National University Hospital)
Kim, Hyang-Suk (Medical Research Institute, Pusan National University Hospital)
Kim, Dae-Seong (Medical Research Institute, Pusan National University Hospital)
Publication Information
Annals of Clinical Neurophysiology / v.12, no.1, 2010 , pp. 27-31 More about this Journal
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.
Keywords
Ullrich disease; Collagen VI; COL6A;
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