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Ann Clin Neurophysiol > Volume 12(1); 2010 > Article
Ann Clin Neurophysiol. 2010; 12(1): 27-31.
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
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
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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