Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant
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¹ÚÀ±È«(Park Yoon-Hong) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Physical and Rehabilitation Medicine
¼º´öÇö(Sung Duk-Hyun) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Physical and Rehabilitation Medicine
¼ÕÁö¿¬(Sohn Ji-Yeon) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
±ââ¼®(Ki Chang-Seok) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
±èµÎȯ(Kim Du-Hwan) - Keimyung University Dongsan Medical Center Department of Physical and Rehabilitation Medicine
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.
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Ullrich congenital muscular dystrophy, Collagen type VI related muscle disorders, COL6A mutation
KMID :
0361420140380020292
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