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

Authors
Yoonhong ParkMyung Seok ParkDuk Hyun SungJi Yeon SohnChang-Seok KiDu-Hwan Kim
Department
Dept. of Rehabilitation Medicine (재활의학)
Issue Date
2014
Citation
Annals of Rehabilitation Medicine, Vol.38(2) : 292-296, 2014
ISSN
2234-0645
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
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/34983
Appears in Collections:
1. Journal Papers (연구논문) > 1. School of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학)
Keimyung Author(s)
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