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Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant

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Author(s)
Yoonhong ParkMyung Seok ParkDuk Hyun SungJi Yeon SohnChang-Seok KiDu-Hwan Kim
Keimyung Author(s)
Kim, Du Hwan
Department
Dept. of Rehabilitation Medicine (재활의학)
Journal Title
Annals of Rehabilitation Medicine
Issued Date
2014
Volume
38
Issue
2
Abstract
Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our outpatient clinic. She had orthopedic deformities (scoliosis, joint contractures, and distal joint hyperlaxity), difficulty of respiration, and many skin keloids. Her hip computed tomography showed diffuse fatty infiltration and the ‘central shadow’ sign in thigh muscles. From the clinical information suggesting collagen type VI related muscle disorder, UCMD was highly considered. COL6A1 gene sequencing confirmed this patient as UCMD with novel c.904G>A (p.Gly302Arg) variant. If musculoskeletal and dermatologic manifestations and radiologic findings imply abnormalities in collagen type VI network, COL6A related congenital muscular dystrophy was to be suspected. Keywords Ullrich congenital muscular dystrophy, Collagen type VI related muscle disorders, COL6A mutation
Keimyung Author(s)(Kor)
김두환
Publisher
School of Medicine
Citation
Yoonhong Park et al. (2014). Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant. Annals of Rehabilitation Medicine, 38(2), 292–296. doi: 10.5535/arm.2014.38.2.292
Type
Article
ISSN
2234-0645
DOI
10.5535/arm.2014.38.2.292
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/34983
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학)
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