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《Chinese Journal of Difficult and Complicated Cases》 2017-05
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The diagnostic and treatment progress of Bethlem myopathy

MA Jianyong;LI Shaoxin;Department of Neurology,Zhengzhou Yihe Hospital;  
Bethlem myopathy is a subtype of congenital muscular dystrophy,it has first been described in medical literature in 1976 by Bethlem and van Wijngaarden,it was caused by mutations in the extracellular matrix protein col lagen Ⅵ.Its character istic features include proximal muscle weakness and wasting,and contractures commonly involving the finger,elbow,and ankle joints.The disease is a rare disease;there are no detailed reports in China.The aim of this paper was to summarize the pathogenesis,clinical manifestation,diagnosis and treatment of.Bethlem myopathy,which help to promote the recognition of this disease.
【CateGory Index】: R746.2
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【Citations】
Chinese Journal Full-text Database 2 Hits
1 Cao Wanglong;Zhang Yanan;Zhong Changgao;Lu Guangxiu;Tan Yueqiu;Institute of Reproduction and Stem Cell Engineering,Central South University;Reproductive and Genetic Hospital of Citic-Xiangya;;Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene[J];中华医学遗传学杂志;2014-06
2 LIU Min-juan~(1△),XIE Min~(2△),MAO Jun~1,LI Hong~1,YAN Wen-hua~1,CHEN Ying~1.1(Center for Reproduction and Genetics,Nanjing Medical University Affiliated Suzhou Hospital,Suzhou,Jiangsu 215002,P.R.China);2(Soochow University Affiliated Children's Hospital,Suzhou,J iangsu 215005, P.R.China);Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy[J];中华医学遗传学杂志;2012-03
【Co-citations】
Chinese Journal Full-text Database 10 Hits
1 Luan Zhaotang;Li Huanzheng;Hu Lin;Chen Chong;Xu Xueqin;Xiang Yanbao;Tang Shaohua;School of Laboratory Medicine and Life Science,Wenzhou Medical University;Central Laboratory,the Central Hospital of Wenzhou;;Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets[J];中华医学遗传学杂志;2017-05
2 Nie Hongbing;Wu Xiangbin;Lyu Jinju;Zhu Jing;Tan Dandan;Department of Neurology,Affiliated Hospital of Jiujiang College;;Clinical and genetic study of a Chinese family affected with caveolinopathies[J];中华医学遗传学杂志;2017-05
3 Zhang Jing;Yang Jing;Hu Zhangxue;Department of Nephrology,West China Hospital,Sichuan University;;Study of a family affected with focal segmental glomerulosclerosis due to mutation of COL4A5 gene[J];中华医学遗传学杂志;2017-03
4 MA Jianyong;LI Shaoxin;Department of Neurology,Zhengzhou Yihe Hospital;;The diagnostic and treatment progress of Bethlem myopathy[J];疑难病杂志;2017-05
5 Hu Lin;Li Huanzheng;Luan Zhaotang;Xu Xueqin;Chen Chong;Wu Ke;Tang Shaohua;School of Laboratory Medicine and Life Science,Wenzhou Medical University;Central Laboratory,The Central Hospital of Wenzhou;;Mutation analysis for a Chinese family affected with Escobar syndrome by whole exome sequencing[J];中华医学遗传学杂志;2017-02
6 Xiang Yanbao;Li Huanzheng;Xu Chen yang;Dong Xueqin;Xu Xueqin;Chen Chong;Tang Shaohua;Central Laboratory,The Central Hospital of Wenzhou;Department of Ultrasonography,The Central Hospital of Wenzhou;;Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease[J];中华医学遗传学杂志;2016-05
7 Chen Yuanchun;Dai Ying;Zhong Min;Department of Neurology,Children's Hospital of Chongqing Medical University;Department of Pediatrics,the Central Hospital of Fulin,Chongqing;Department of Child Health,Children's Hospital of Chongqing Medical University;Chongqing Key Laboratory of Pediatrics/Ministry of Education Key Laboratory of Child Development and Disorders;;Gene diagnosis in 3 family members of Duchenne muscular dystrophy[J];重庆医学;2016-07
8 Gong Zhuwen;Yu Yongguo;Zhang Qigang;Gu Xuefan;Department of Pediatric Endocrinology and Genetic Metabolism,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai Institute of Pediatric Research;Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine;;Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing[J];中华医学遗传学杂志;2015-02
9 Gao Zhijie;Jiang Qian;Chen Qian;Capital Institute of Pediatrics;;Application of Next-generation Sequencing in Methylmalonic Aciduria and PKU Diagnosis[J];医学研究杂志;2015-03
10 Li Tao;Hou Qiaofang;Wu Dong;Wang Hongdan;Liu Hongyan;Yang Yangli;Zhang Chaoyang;Ding Xuebing;Liao Shixiu;Medical Genetics Institute of Henan Province,the People's Hospital of Henan Province;;Genetic diagnosis for a family without exonic deletions and duplications of dystrophin gene[J];中华医学遗传学杂志;2015-01
【Secondary Citations】
Chinese Journal Full-text Database 3 Hits
1 YANG Hai-po~*, ZHANG Yan-zhi,DING Juan,JIAO Hui,LU Jun-lan,XIONG Hui * Department of Pediatrics,Peking University First Hospital,Beijing 100034,China;Clinical and mutation analyses of a Chinese family with Bethlem myopathy[J];中华医学杂志;2012-40
2 LIU Min-juan~(1△),XIE Min~(2△),MAO Jun~1,LI Hong~1,YAN Wen-hua~1,CHEN Ying~1.1(Center for Reproduction and Genetics,Nanjing Medical University Affiliated Suzhou Hospital,Suzhou,Jiangsu 215002,P.R.China);2(Soochow University Affiliated Children's Hospital,Suzhou,J iangsu 215005, P.R.China);Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy[J];中华医学遗传学杂志;2012-03
3 LI Hong , DING Jie , WANG Wei, CHEN Ying , LU Wei SHAO Hong~3 , WU Bai-lin~3. 1 (Center for Reproduction and Genetics, Nanjing Medical UniversityAffiliated Suzhou Hospital, Suzhou, Jiangsu, 215002 P. R. China.2 (Department of Gynecology , the First Affiliated Hospital of Suzhou University, Suzhou, Jiangsu,215002 P. R. China); 3 (Department of Laboratory Medicine, Children's Hospital and HarvardMedical School. Boston. MA 02115, USA);Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis[J];中华医学遗传学杂志;2009-03
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