| A Case of Sporadic Ullrich Congenital Muscular Dystrophy Caused by a COL6A1 Mutation |
| Young-Eun Park, Tae-Hyoung Kim, Hyang-Suk Kim, and Dae-Seong Kim |
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| Copyright © 2010 The Korean Society of Clinical Neurophysiology |
| This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium,
provided the original work is properly cited. |
| 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 causedby 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 whomthe diagnosis was confirmed by immunohistochemistry and molecular genetic study. |
| Key words:
Ullrich disease, Collagen VI, COL6A |
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