Collagen VI-related myopathy with scoliosis alone: A case report and literature review
作者机构：Department of OrthopaedicsPeking University Third HospitalBeijing 100083China Department of HematologyPeking University Third HospitalBeijing 100083China Department of PathologyPeking University Third HospitalBeijing 100083China Department of NeurologyPeking University Third HospitalBeijing 100083China
出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)
年 卷 期：2021年第9卷第19期
页 面：5302-5312页
核心收录：
学科分类：1002[医学-临床医学] 100210[医学-外科学(含：普外、骨外、泌尿外、胸心外、神外、整形、烧伤、野战外)] 10[医学]
主 题：Paravertebral pathology Scoliosis Collagen VI-related myopathy Genetic testing Neuromuscular diseases Case report
摘 要：BACKGROUND Scoliosis is a complex three-dimensional deformity of spine and one of the common complications of collagen VI-related myopathy,caused by mutations in collagen type VI alpha 1 chain(COL6A1),COL6A2,and COL6A3 *** typical clinical presentations of collagen VI-related myopathy include weakness,hypotonia,laxity of distal joints,contractures of proximal joints,and skeletal *** SUMMARY A 28-year-old female presented with scoliosis for 28 years without weakness,hypotonia,laxity of distal joints,and contracture of proximal *** tomography and magnetic resonance imaging revealed hemivertebra,butterfly vertebra,and the missing vertebral *** underwent orthopedic surgery and paravertebral muscle *** Cobb angle dropped from 103.4°to 52.9°.However,the muscle biopsy showed neurogenic muscular atrophy with myogenic lesions,suggesting congenital muscular *** analysis indicated that mutations in COL6A1(c.1612-10GA)and COL6A2(c.115+10GT,c.2749GA).Immunohistochemistry staining for collagen VI displayed shallow and ***,the patient was diagnosed as collagen VI-related *** This newly found subtype of collagen VI-related myopathy has no typical manifestations;however,it is characterized by severe scoliosis and congenital vertebral deformity.
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